DRUGS & CONDITIONS

OVERVIEW: LYSOSOMAL STORAGE DISORDERS

Topics:

What are lysosomal storage disorders?

Keeping a human body healthy is a real balancing act. Cells throughout the body have to constantly take in nutrients while getting rid of waste products and other unwanted compounds. This task usually runs smoothly thanks to our lysosomes, the recycling centers of the cells. Lysosomes contain enzymes that break down many compounds that could be harmful to cells. But if any of those enzymes are missing or don’t work as well as they should, the balancing act breaks down. Unwanted substances can start piling up in cells, causing a wide range of diseases known as lysosomal storage disorders.
Doctors have recognized more 40 different lysosomal storage disorders, each with their own set of symptoms, complications, and treatments. Examples include the following:

The genes that cause lysosomal storage disorders are almost always inherited, which means that one or both parents also had the genes. In very rare cases, a disorder can be blamed on a brand-new mutation that happened during a child’s development.

Lysosomal disorders are inherited in different ways. Gaucher’s disease, for example, occurs when a person inherits a damaged gene from each parent. If they only inherit one bad copy of the gene, they won’t have the disease but they will be a carrier. When two carriers have a child, there’s a one in four chance that the child will have Gaucher’s disease, a one in two chance that the child will be a carrier, and a one in four chance that the child won’t be either a Gaucher’s sufferer or a carrier.

In contrast, it takes only one bad copy of a gene to cause Fabry disease. The gene is carried only on the X chromosome, and people inherit it from their mothers. Women who have the genetic defect on one of their chromosomes are called carriers. Any of his sons will have a 50/50 chance of developing the disease. Her daughters will have a 50/50 chances of being carriers.

What are the symptoms of lysosomal storage disorders?

Although lysosomal disorders are hard to diagnose, there are some signs that appear in several types and are considered red flags (especially when a few of them are present at the same time). These include a purplish-blue skin rash, cloudy eyes, unusual facial features such as an enlarged tongue, muscle weakness or a gradual loss in motor skills, short stature and bone abnormalities, developmental problems, and a belly that sticks far out from the abdomen (which could indicate enlarged organs or hernias).

How are lysosomal storage disorders treated?

Doctors can prescribe many different medications to ease symptoms of lysosomal storage disorders. But for most patients, replacing the missing enzyme is the real key to recovery and good health. The FDA has approved several medications containing artificial versions of enzymes. One of the oldest and most successful such medications is Cerezyme, a treatment for Gaucher’s disease approved by the FDA in 1994. Fabrazyme, an artificial enzyme for the treatment of Fabry disease, was approved in 2003. These treatments are given through IV injections, usually every two weeks. Such treatments can dramatically relieve symptoms and prevent complications.

Unfortunately, artificial enzymes are extremely difficult and costly to make, and treatment can easily cost over $100,000 each year. Because lysosomal storage disorders are so rare, drug companies haven’t been able or willing to develop enzyme replacement therapies for every type of disorder. For example, there is no currently no enzyme replacement therapy for Tay-Sachs disease.

Who should get tested for lysosomal storage disorders?

Most lysosomal storage disorders can be diagnosed with simple blood tests. That brings up a crucial and sometimes complicated question: Who should get tested? If one person in a family is diagnosed with a lysosomal storage disorder, other people in the family may either have the disorder or at least carry a faulty gene. If a child develops Gaucher’s disease, any brothers or sisters should definitely be checked. Pregnant women who know that they are carriers for Gaucher’s disease or other lysosomal disorder may decide to prenatal testing, if only so they can know whether or not their child will need a lifetime of treatment.

-- Chris Woolston, MS, is a contributing editor to Consumer Health Interactive. A former staff writer for Hippocrates magazine, he has written for Health, Prevention, and other journals. He writes The Healthy Skeptic, a biweekly column in the Los Angeles Times. He is also the co-author of Generation Extra Large: Rescuing Our Children from the Epidemic of Obesity (Perseus paperback, 2006).

References

Mehta AB et al. Treatment of lysosomal storage disorders. British Medical Journal. 2003. 327: 462-463. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=188370

Cedars-Sinai Medical Center. Lysosomal store disease program.

Wenger DA et al. Insights into the diagnosis and treatment of lysosomal storage disorders. Archives of Neurology. 2003. 60: 322-328.

Mayo Clinic. Gaucher’s disease. 2007. http://www.mayoclinic.com/health/gauchers-disease/DS00972

National Institutes of Health. 2008. Gene Reviews: Fabry disease. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fabry

American Nurse Association. An overview of enzyme replacement therapy for lysosomal storage diseases. 2008. http://www.nursingworld.org/MainMenuCategories/ANAMarketplace/ANAPeriodi...


First published June 16, 2009

Copyright © 2009 CVS Caremark

DRUGS & CONDITIONS

FABRY DISEASE

Topics:

What is Fabry disease?

From the time we take our first sip of milk as infants, fats are a major part of our diets. The body uses different enzymes to break down those fats into smaller, digestible pieces. People who are born with Fabry disease have a problem with a key enzyme— ceramide trihexosidase—that breaks apart fatty substances known as lipids. Because of a faulty gene, the enzyme is either missing completely or doesn’t work as well as it should. As a result, lipids can start building up in the body over the years, eventually causing trouble with the eyes, skin, nerves, kidneys, and heart.

Fabry disease is very rare. By the latest estimates, it affects as few as one out of 117,000 people, including one out of 40,000 to 60,000 males.

How is Fabry disease inherited?

The faulty gene that causes Fabry disease is carried on the X chromosome. For this reason, it affects boys more frequently and severely than girls. A girl inherits two X chromosomes, one from her father and one from her mother. If one of those chromosomes carries the faulty gene, the other chromosome will help cancel it out. But a boy only inherits one X chromosome from his mother. If that chromosome carries the gene for Fabry disease, he’ll get the illness.

Women who have the gene for Fabry disease are called carriers. Every male child of a carrier has a 50/50 chance of developing the disease. Every female child of a carrier has a 50/50 chance of becoming a carrier herself. If desired, women who know they are carriers can have prenatal genetic testing to check the status of their unborn child.

It only takes a simple blood test to diagnose the disease. When a person tests positive, other people in the family who could possibly carry the gene should be tested too. If someone else is found to have the disease, treatment should begin as soon as possible.

What are the symptoms of Fabry disease?

Starting in childhood or adolescence, people with Fabry disease may start developing small, purplish bumps on the skin. They may suffer from agonizing, burning pains in the hands and the feet that can last for minutes or days. The cornea of the eye may become cloudy. Other signs include hearing trouble, a loss of ability to sweat, fever, and digestive troubles after meals. Because lipids tend to build up in arteries, people with Fabry disease are at high risk for heart attack or stroke by the time they reach young adulthood, if not earlier.

People who completely lack the ceramide trihexosidase enzyme suffer from the most severe symptoms. People who have a damaged form of the enzyme—which is probably the majority of people with Fabry disease—tend to have relatively mild symptoms that show up later in life.

Can Fabry disease be treated?

Doctors can prescribe several different medications to ease the symptoms of Fabry disease. Medications that calm the nerves can greatly reduce episodes of pain in the hands and feet. Options include diphenylhydantoin (Dilantin) and carbamazepine (Tegretol). Treatment with ACE inhibitors can help prevent damage to the heart and kidneys. Still, many patients eventually need dialysis or kidney transplants.

For most people with Fabry disease, enzyme replacement therapy will be an important part of their treatment. Patients can receive agalsidase beta (Fabrazyme)—an artificial form of the enzyme that’s missing or damaged—through an IV injection. Unfortunately, some patients are allergic to this artificial enzyme. But as long as their body accepts it, the injections can greatly reduce the symptoms and damage caused by the disease.

-- Chris Woolston, MS, is a contributing editor to Consumer Health Interactive. A former staff writer for Hippocrates magazine, he has written for Health, Prevention, and other journals. He writes The Healthy Skeptic, a biweekly column in the Los Angeles Times. He is also the co-author of Generation Extra Large: Rescuing Our Children from the Epidemic of Obesity (Perseus paperback, 2006).

References

National Institute of Neurological Disorders and Stroke. Fabry disease information page. 2009. http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm

U.S. National Library of Medicine. Genetic conditions: Fabry disease. 2009. http://ghr.nlm.nih.gov/condition=fabrydisease

National Institutes of Health. 2008. Gene Reviews: Fabry disease. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fabry


First Published June 16, 2009

Copyright © 2009 Consumer Health Interactive

DRUGS & CONDITIONS

WHAT IS GAUCHER DISEASE?

Topics:

Disease History

In 1882, French medical student Phillipe Charles Ernest Gaucher saw a 32-year old woman with an enlarged liver and spleen. After the woman's death, Gaucher examined the cells of the spleen. In his doctoral thesis, Gaucher described the cells and the woman's clinical symptoms. The enlarged cells became known as "Gaucher cells." The disease marked by the presence of these cells was called Gaucher disease.

In 1924, a German physician, H. Lieb, isolated a fatty compound from the spleens of patients with Gaucher disease. A French physician, A. Aghion, identified this substance as glucocerebroside in 1934. In 1965, an American physician proved that glucocerebroside collects in Gaucher cells due to the lack of an enzyme, glucocerebrosidase. This discovery opened the door for new treatments, most notably, enzyme replacement therapy.

Disease Classification

Gaucher disease is an inherited metabolic disease. Gaucher disease is sometimes referred to as a lysosomal storage disorder.

Genetic changes cause decreased production of the enzyme, glucocerebrosidase. Without this enzyme, cells are unable to break down or metabolize the substance glucocerebroside. Instead, this substance remains stored in the lysosomes of macrophages. Macrophages are special cells that break down and recycle old cells. A lysosome is a special processing compartment within the macrophage. These enlarged macrophages with an excess of glucocerebroside are the Gaucher cells first described in 1882. The accumulation of Gaucher cells can result in an enlarged spleen and liver, anemia, clotting problems, skeletal abnormalities, and in some patients nerve damage.

Disease Types

More than 300 genetic changes that cause Gaucher disease have been described. Of these, four mutations account for 50% to 75% of the symptomatic patients. Despite the many genetic variants, there are only three types of Gaucher disease.

Type I

Type I or nonneuronopathic Gaucher disease is the most common form. This form affects all age groups but is most likely to begin during adulthood. Although all ethnic groups can be affected, Type I is most common among people of Eastern European (Ashkenazi) Jewish ancestry. Symptoms associated with Type I include enlarged liver and spleen and problems with the bones. Type I does not usually affect the nervous system. Before the advent of enzyme replacement, the median survival was 60 years.

Type II

Type II is also known as infant or acute neuronopathic Gaucher disease. This form of the disease affects all ethnic groups. Type II is marked by central nervous system (CNS) complications in addition to the symptoms of Type I. CNS complications begin within a few months of birth. The disease progresses rapidly and is usually fatal by age two with a median survival of 11 months.

Type III

Type III is also known as subacute or chronic neuronopathic Gaucher disease. Type III is an intermediate form between Type I and Type II. Type III affects all ethnic groups. However, this form of the disease is most common among Norrbottnian Swedes. Symptoms usually begin during childhood and progress slowly. The central nervous system is also affected in this form of the disease. However, CNS symptoms have a later onset and are less severe than with Type II. Before the advent of enzyme replacement, the median survival was 13 years.

References

Accordant Health Services. Core materials.

Genzyme Corp. Living with Gaucher Disease: A guide for patients, parents, relatives and friends.

National Gaucher Foundation. Gaucher disease.

NINDS. Gaucher disease. (http://www.ninds.nih.gov/health_and_medical/disorders/gauchers_doc.htm)


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

WHO GETS GAUCHER DISEASE?

Topics:

Who gets Gaucher Disease?

Gaucher disease is a rare disorder. Estimates of the number of patients throughout the world with some form of the disease range from 20,000 to 40,000 people. Although many gene variations can cause Gaucher disease, there are only three types.

Type I is the most common form of Gaucher disease. Type I can affect all ethnic groups. Estimates of the number of new cases diagnosed each year range from one in 57,000 people to one in 86,000 people. Type I is most common among people of eastern European (Ashkenazi) Jewish descent. Among this population, estimates of the number of new cases rises to between one in 500 people and one in 800 people.

Type II affects infants. This form of the disease progresses rapidly and is usually fatal by age two. Type II affects all ethnic groups. About one new case per 100,000 people is diagnosed each year.

Type III begins during childhood. Although all ethnic groups are affected, Type III is most common among Norrbottnian, Swedes. Estimates of the number of new cases each year range from one per 50,000 to one per 100,000 people.

The Genetics of Gaucher Disease

Gaucher disease is inherited and is classified as an autosomal recessive disorder.

Genes are organized on 23 pairs of chromosomes. One pair of chromosomes determines sex. This pair is referred to as sex chromosomes. The remaining 22 pair are referred to as autosomes. The genes that cause Gaucher are located on the autosomes. Because autosomes do not affect the sex of the offspring, males and females have an equal chance in inheriting the disease.

A person inherits one copy of each gene from each parent. If a trait is recessive, both genes must carry that trait. If one gene carries the trait and the other does not, the person is called a carrier. Carriers do not show the trait. However, carriers can pass the trait to their offspring. Because Gaucher disease is recessive, both genes must have changes that lead to the disease. Over 300 genetic changes that lead to Gaucher disease have been identified. Of these variants, four changes account for about 95% of disease cases in Jewish people of eastern European descent and 50% to 75% % of disease cases in the general population.

Inheritance Patterns

The following charts show how each child can be affected based on the parents' genes. Each birth is independent. This means that the genetic status of one child does not affect the odds for the next child.

"G" represents a gene for Gaucher disease. "g" represents a normal gene. A person with Gaucher would have two genes for the disease, GG. A carrier would have one gene for the disease and one normal gene, Gg. A person who does not have the disease and is not a carrier would have two normal genes, gg.

  Parent 1 Parent 2 Child % chance for child
Case 1 GG: has disease GG: has disease G1G2: has disease 100% disease
Case 2 GG: has disease Gg: carrier G1G2: has disease
G1g2: carrier
50%
50%
Case 3 Gg: carrier Gg: carrier G1G2: has disease
G1g2 or g1G2: carrier
g1g2: normal
25%
50%
25%
Case 4 GG: has disease gg: normal G1g2: carrier 100% carrier
Case 5 Gg: carrier gg: normal G1g2: carrier
g1g2: normal
50%
50%

References

Accordant Health Services. Core materials.

Genzyme Corp. Living with Gaucher Disease: A guide for patients, parents, relatives and friends.

National Gaucher Foundation. Prevalence and transmission of Gaucher Disease.


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

WHAT CAUSES GAUCHER DISEASE?

Topics:

The symptoms of Gaucher disease are caused by decreased amounts of an enzyme, glucocerebrosidase. This enzyme breaks down fatty substances called lipids. When the lipids are not broken down, they continue to be stored in cells called macrophages. For this reason, Gaucher disease is classified as a lipid storage disorder.

In Gaucher disease, the lipid-laden cells are called Gaucher cells. As the disease progresses, the Gaucher cells continue to increase. The Gaucher cells crowd out healthy cells and create the many symptoms and problems associated with this disease.

Macrophages

Macrophages are special cells that help protect the body from foreign substances such as bacteria. Macrophages also help the body recycle old cells.

Macrophages are found in several areas of the body. The specific name of a macrophage depends on where it is found. Macrophages in the spleen are called splenic macrophages. Kupffer cells are the macrophages in the liver. Macrophages in the skin are called Langerhans cells. Macrophages in the brain are called microglia cells. Alveolar macrophages are found in the lungs. Macrophages are also found in the lymph nodes, bone marrow, and circulate freely in the blood.

Foreign substances do not have the body's protective code. Old cells also lose this coding. Consequently, when foreign substances and old cells come in contact with a macrophage, they are already "marked for destruction." The macrophage pulls the doomed product inside. The product is then shuttled to a lysosome where it is processed.

Lysosomes are sometimes called "cellular garbage disposals" and "the cell's digestive tract." Lysosomes are special compartments within each macrophage. These compartments contain enzymes to break down or digest the substance attacked by the macrophage. One of these enzymes is glucocerebrosidase.

Glucocerebroside

Glucocerebroside is a fatty substance that is used as a building block to make certain cell membranes. When the cells wear out, the glucocerebroside can be recycled. This recyclable material comes mainly from the breakdown of old red and white blood cells. In the brain, glucocerebroside also comes from the processing of lipids during brain development and the formation of the myelin sheath. Glucocerebroside is recycled when an enzyme, glucocerebrosidase breaks it into glucose and a fat called ceramide.

In Gaucher disease, the genes that direct the production of the enzyme, glucocerebrosidase, are defective. Consequently, the amount of enzyme needed to process all of the glucocerebroside is not produced. Without enough enzyme, the glucocerebroside continues to collect indefinitely in the lysosomes of macrophages.

The Role of Genetics

Gaucher disease is an inherited disorder and is classified as autosomal recessive. Because these genes occur on the autosomes, which have no role in determining sex, the disease affects males and females. Recessive means that both genes must be defective for the disease to occur.

Researchers have identified over 300 gene mutations or changes that cause Gaucher disease. Different gene patterns have been linked to differences in disease symptoms, severity, and rate of disease progression. Researchers continue to study the significance of the gene patterns as a means of identifying more effective treatment for the disease.

Recent studies show a link between Gaucher-related GBA mutations and a neurological condition called parkinsonism or Parkinson's disease. This correlation needs continuing study, but it is important to discuss any neurological symptoms or changes you have with your doctor.

References

Accordant Health Services. Core materials.

Genzyme Corp. Living with Gaucher Disease: A guide for patients, parents, relatives and friends.

National Gaucher Foundation. Gaucher disease. (http://www.gaucherdisease.org/gaucher_disease.htm)


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

WHAT ARE THE SYMPTOMS OF GAUCHER DISEASE?

Topics:

Symptoms of Gaucher disease depend on where the Gaucher cells collect. These cells most commonly collect in the spleen, liver and bone marrow. Cells can also collect in the lymph system, skin, lungs, kidneys, and nervous system. Specific symptoms and severity vary from one patient to another. Some patients have almost no symptoms. Others may develop life-threatening conditions.

Researchers are beginning to identify genetic changes that are most closely linked to specific symptoms and disease severity. However, this research is in the very early stages. Doctors classify Gaucher disease into three types based on the amount of nerve involvement and the person's age. Currently, with the exception of nervous system involvement, doctors cannot precisely predict which symptoms a patient will experience or their severity.

Possible Symptoms

Individual's with any of the three types of Gaucher disease may have any or all of the following symptoms.

Enlarged spleen — An increase in the size of the spleen (splenomegaly) is the most common sign of Gaucher disease. This enlargement can cause the patient to look overweight or pregnant. Although the spleen can increase up to 20 times its normal size, this change is often painless in itself. However, splenomegaly can cause discomfort associated with other organs such as the lungs, stomach and intestines. The enlarged spleen can press on the lungs, making breathing difficult. Pressure on the stomach and intestines can cause loss of appetite and other digestive problems.

In addition to the spleen being enlarged, the activity of the spleen is also altered. The primary role of the spleen is to break down old blood cells. Because the spleen is overactive, blood cells are broken down faster than they can be produced. Thus, there is a deficiency of red and white blood cells and of blood platelets.

Blood complications — Red blood cells carry oxygen to all other cells. Without sufficient red blood cells, tissues do not get enough oxygen. Consequently, patients experience symptoms such as fatigue.

White blood cells help the body fight infections. A deficiency of white blood cells increases the patient's risk of infection.

Blood platelets are an important part of the body's blood clotting system. A deficiency of blood platelets lowers the body's ability to form blood clots. This deficiency increases the tendency for bruising and bleeding. Frequent and heavy nosebleeds are common in patients with Gaucher disease with low blood platelets.

Enlarged liver — Hepatomegaly is the term for an enlarged liver. Gaucher cells can cause the liver to enlarge up to nine times its normal size. Although liver function is altered, the impact is usually minor. In some cases, however, patients can develop cirrhosis. Cirrhosis is a condition in which liver cells are replaced with scar tissue. Liver function can become significantly impaired with cirrhosis.

Bone complications — Gaucher cells in the bones can have many effects. The bone marrow produces blood cells. When bone marrow does not function properly, fewer blood cells are produced. The decreased production increases the severity of blood cell deficiencies caused by an overactive spleen

Gaucher cells can also restrict blood flow in the bone, thereby reducing oxygen to the bone cells. A sudden lack of oxygen creates a "bone crisis," an extremely painful condition. Lack of blood flow can also lead to the destruction of bone tissue. In such cases, bones become thinner, deformed, brittle and prone to fracture. If the fracture occurs in the spine, nerve damage can occur.

The presence of Gaucher cells in the bone increases the risk of bone infections. This risk is increased by a deficiency of white blood cells as discussed earlier. The presence of Gaucher cells in the bones of children can cause a lack of growth.

Skin changes — Gaucher cells can also cause changes in the skin. Skin symptoms include yellow-brown coloring. Non-raised, round, purplish-red spots can also occur in the skin, especially around the eyes.

Symptoms Unique to Type II and Type III

Type II Gaucher disease is characterized by extensive brain damage within the first year of life. Initially, the infant may appear normal. However, neurological problems are seen within a few months. The symptoms progress rapidly and the disease is usually fatal by age two with a median survival of 11 months.

Type III Gaucher disease resembles Type I with the addition of neurological symptoms. These symptoms include problems with vision, movement and cognition. Symptoms of Type III begin in early childhood but progress slowly.

Neurological changes — Recent studies show a link between Gaucher disease and a neurological condition called parkinsonism or Parkinson's disease. This correlation needs continuing study, but it is important to discuss any neurological symptoms or changes you have with your doctor.

References

Accordant Health Services. Core materials.

Genzyme Corp. Living with Gaucher Disease: A guide for patients, parents, relatives and friends.

National Gaucher Foundation. Gaucher disease. (http://www.gaucherdisease.org/gaucher_disease.htm)


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

HOW IS GAUCHER DISEASE DIAGNOSED?

Topics:

A diagnosis of Gaucher disease is initially based on the patient's medical history and a physical exam. Laboratory tests are then used to confirm the diagnosis.

History and Symptoms

During the office visit exam, the doctor will ask about the patient's family medical history. Because Gaucher disease is inherited, a family history of the disease can provide a basis for making the diagnosis. However, the seeming lack of Gaucher disease in the patient's parents cannot rule out the diagnosis. It is possible for both parents to be undetected carriers of the disorder.

The doctor will ask about the patient's symptoms. Fatigue, easy bruising, frequent nosebleeds, and pain are common symptoms for patients with Gaucher disease. Changes in skin color can also occur. A history of frequent fractures could also point to a diagnosis of Gaucher disease.

When examining the patient, the doctor will feel for an enlarged spleen and/or enlarged liver. Eye movement will be observed to evaluate possible nervous system involvement. Because Gaucher disease can affect growth, the doctor will also evaluate height for children.

Many other diseases can cause some of the symptoms of Gaucher disease. Therefore, the doctor will want to confirm a suspected diagnosis with laboratory testing. Other tests may be used to determine the severity of the disease. Although testing can confirm a diagnosis of Gaucher disease, testing cannot identify the disease type. The type of Gaucher disease is diagnosed based on the patient's symptoms and the age at which they occur.

Laboratory Tests

A test for glucocerebrosidase activity confirms a diagnosis of Gaucher disease. The level of activity of glucocerebrosidase is reduced in patients with Gaucher. The test is performed on a sample of the patient's blood. Using DNA testing to identify the individual's genetic makeup is an important part of the diagnosis and can be helpful in defining the class, severity, and prognosis of Gaucher disease. In addition, DNA testing provides the most reliable means of identifying carriers.

In some cases, certain skin cells called fibroblasts may be collected and tested for glucocerebrosidase activity. To collect the skin cells, the doctor numbs an area with an anesthetic, or numbing drug. A small cut is made in the numbed area and a piece of tissue is removed. The doctor then closes the cut. Although a glucocerebrosidase activity test can confirm a diagnosis of Gaucher disease, it cannot predict the severity of the disease.

Blood tests may be used to measure the number of red and white blood cells and blood platelets. Gaucher disease causes a decrease in the number of blood cells and platelets.

X-rays can show some bone changes due to Gaucher disease. An Erlenmeyer flask deformity is a change often associated with this disease. The ends of long bones normally resemble a plant bulb, stalk and round flower. The ends are rounded with a wide shaft in between. With Erlenmeyer flask deformity, the shaft is very thin. The ends of the bones are then flared to a somewhat triangular shape. The end of the bone is the widest section of the triangle. MRI tests and/or CT scans may be used to detect other bone changes, such as lesions.

MRI and CT scans may also be used to measure the volume of the spleen and liver. These organs are enlarged in patients with Gaucher disease. Blood tests may be used to examine liver function.

An enlarged spleen and/or liver decreases the amount of space available for the lungs. Gaucher cells can also collect in the lungs. Consequently, breathing can be affected in some patients. Pulmonary function tests are used to evaluate breathing. These are non-invasive tests in which a patient breathes into a special machine called a spirometer.

References

Accordant Health Services. Core materials.

Genzyme Corp. Living with Gaucher Disease: A guide for patients, parents, relatives and friends.

National Gaucher Foundation. Testing for Gaucher Disease. (http://www.gaucherdisease.org/testing.htm)


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

WHAT CAN I EXPECT WITH GAUCHER DISEASE?

Topics:

The prognosis for Gaucher disease depends in part on the disease type. With Gaucher Type I and Type III, prognosis is highly variable for each patient. There are currently no tests that will accurately predict the course of Type I and Type III Gaucher for any given patient.

Lifespan

Type II Gaucher disease is marked by serious central nervous system (CNS) complications. These complications begin within a few months of birth. The disease progresses rapidly and is usually fatal by age two.

The symptoms of Type III usually begin during childhood and progress slowly. The central nervous system is also affected. However, CNS symptoms have a later onset and are less severe than with Type II.

The symptoms of Type I usually begin in adulthood. Symptoms can range from non-existent to life-threatening. The rate of disease progression can vary but is generally slow.

Quality of Life

The recent development of enzyme replacement therapy (ERT) has significantly altered the prognosis for most patients. ERT replaces the missing glucocerebrosidase. This therapy does not cure the disease, but it can reverse the disease process and improve quality of life.

Hope through Research

Scientists continue to study the gene changes that cause Gaucher disease. Efforts are underway to develop treatment based on this knowledge. It may be possible for normal genes to be introduced into the cells of patients, causing these cells to produce enough glucocerebrosidase. Gene therapy is in the very early stages of development. There is still a lot of work to be done before gene therapy can become a reality for patients.

Scientists are also searching for improved treatment for the problems caused by Gaucher. Research trials are underway to examine the effectiveness of alendronate in reducing the impact of Gaucher on the bones.

Although ERT is effective for most patients, drug availability is limited due to limited sources of the product. Consequently, treatment is expensive. The FDA approval of velaglucerase alfa (VPRIV™) in February 2010 provided another treatment alternative to Cerezyme, which has been available in limited supply. Researchers are continuing to search for alternative sources for the enzyme, including the use of genetically altered tobacco plants. Researchers are also studying methods by which to increase the amount of time that enzyme replacement drugs spend in the blood.

Researchers are also examining alternative methods for treating the process of Gaucher disease. Researchers are studying the use of drugs to decrease the production of glucocerebroside. This "front-end" approach would reduce the need for glucocerebrosidase, the deficient enzyme.

References

Accordant Health Services. Core materials.

National Gaucher Foundation. Clinical Course of Gaucher disease. (http://www.gaucherdisease.org)

NINDS. Gaucher disease. http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

BONE PAIN AND GAUCHER DISEASE

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Bone pain is common in patients with Gaucher disease. Bone pain can occur for many reasons, including osteomyelitis, bone infarction and fractures.

Bone Crisis

A bone infarction is usually referred to as a "bone crisis." An infarction occurs when cells are deprived of oxygen.

Gaucher cells frequently collect in the bones and can interfere with normal blood flow. When blood flow is limited, an area of the bone is deprived of oxygen. Any bone can be affected but the long bones and vertebrae are most commonly affected.

The primary symptom of a bone crisis is severe pain in the bone. The pain may last for a few days or a few weeks. If the infarction is near a joint, the joint may swell and movement may increase pain. Weight-bearing activity can also increase the pain. In some cases, fever may occur. The skin over the affected area may appear red and shiny and may feel warm to the touch.

Bone infarctions are usually diagnosed based on the patient's symptoms. In some cases, magnetic resonance imaging (MRI) may be used to confirm the diagnosis.

The goal of treatment for a bone crisis is to improve patient comfort. In most cases, the condition improves in a week or two with rest. Non-steroidal anti-inflammatory drugs (NSAID's) may be used to relieve inflammation and narcotic analgesics may be prescribed for pain.

Fractures

Patients with Gaucher disease are at higher risk for fractures due to a decrease in bone mass caused by the disease. A fracture is a break or crack in a bone. Fractures can occur in any bone. In patients with Gaucher disease, fractures most commonly occur in the vertebrae, upper end of the femur and the radius. The femur is also known as the thigh bone. The radius is the bone on the thumb side of the forearm.

A compression fracture is a type of fracture in which the bone has crumbled or collapsed. Compression fractures most commonly occur in the vertebrae. When these fractures occur, the patient usually experiences sudden, severe pain in the lower or middle back that may feel like a muscle spasm.

Fractures are diagnosed with X-rays. These tests also provide a visual aid for treating the fracture.

The treatment for a fracture depends on the type, severity and location of the fracture. When the bone is completely broken, treatment involves "setting" the bone. In this process, the broken ends of the bone are realigned. Casts are used to help hold the bones in place while they heal. In some cases, "open reduction" may be required. Open reduction is a surgery wherein the doctor makes a cut over the broken bone and then realigns it. Pins, screws, plates or wires may be used to keep the pieces of bone in place while they heal. The incision or cut is then closed. Compression fractures are usually treated with bed rest until the pain decreases. In some cases, the patient may use a corset or back brace to provide extra support for the back.

Pain Management

Coping with bone pain can present a challenge for many patients. Pain can sometimes interfere with sleep, which can then make the pain and coping worse.

NSAID's may help relieve pain in addition to reducing inflammation. Narcotics may be prescribed to relieve the initial pain associated with fractures.

Many patients find that using relaxation techniques aids in pain management. These techniques include deep breathing, progressive relaxation, visualization, and meditation. Any activities that provide a mental distraction from the pain without worsening the condition may also be helpful.

References

Accordant Health Services. Core materials.


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

ANEMIA AND GAUCHER DISEASE

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Anemia is a condition in which the number of red blood cells or the amount of hemoglobin is too low. Anemia is not a disease itself. Instead, anemia is a condition caused by diseases such as Gaucher disease.

Red Blood Cells

Red blood cells are also called erythrocytes. These cells carry oxygen throughout the body. The average adult male has about 5,200,000 red blood cells per cubic millimeter of blood. The average adult female has about 4,700,000 cells.

Hemoglobin is the most important component of red blood cells. This substance, composed of protein and iron, is responsible for carrying oxygen. Each red blood cell contains about 200 to 300 hemoglobin molecules. Too little hemoglobin limits the amount of oxygen that can get to the body's tissues.

When viewed, red blood cells look like tiny, flexible inner tubes. This shape provides more surface area to carry oxygen and carbon dioxide. The shape also allows the cells to move more easily through capillaries, the smallest blood vessels. Red blood cells that are malformed do not function properly.

Production and Destruction

The body carefully balances the production and destruction of red blood cells. An excess of cells can make the blood too thick. Too few cells result in anemia.

The production of red blood cells is called erythropoiesis. The process occurs primarily in the bone marrow. In children younger than five years old, the marrow in all of the bones produces these cells. With age, the number of production sites decreases. Eventually, red blood cells are produced only in the marrow of the spine, ribs and pelvis.

Red blood cells live for 120 days. Old cells are removed from circulation by the spleen and liver. The cells are broken down in a process called hemolysis. The iron is returned to the bone marrow to be reused in new cells.

Impact of Gaucher Disease

Anemia can be caused by blood loss, increased destruction of red blood cells or decreased production of the cells. These processes can occur alone or together.

Gaucher disease increases the activity of the spleen. Consequently, blood cells are filtered from the blood and destroyed at a faster rate. Gaucher cells in the bone cause decreased production of red blood cells.

Symptoms of Anemia

Fatigue and weakness are the most common symptoms of anemia. Even patients with mild anemia usually experience these symptoms.

In addition to fatigue and weakness, moderate to severe anemia can cause shortness of breath, rapid heartbeat, and lightheadedness. Headache and irritability are also common. Many patients experience tinnitus. Tinnitus is a condition in which the patient "hears" a buzzing sound from within the head. Anemia can cause the skin to appear pale. Some patients can also experience mental confusion due to anemia.

Diagnosis of Anemia

Anemia is diagnosed with a complete blood count (CBC) test. This test measures the number of red blood cells in a sample of the patient's blood. The test also examines the shape of the cells.

Additional blood tests may be performed to rule out possible causes of anemia other than Gaucher disease.

Treatment of Anemia

Treatment for anemia depends on its cause. Treating the Gaucher disease with glucocerebrosidase replacement therapy usually improves anemia. If other factors such as too little iron, were contributing to the anemia, these factors would be treated as appropriate.

Dietary changes may be recommended to help treat the anemia in some patients. Some patients may also choose to limit activity to reduce the impact of fatigue while the number of red blood cells returns to normal.

References

Accordant Health Services. Core materials.

Mayo Clinic. Anemia. http://www.mayoclinic.com/invoke.cfm?id=DS00321


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

GENETIC ISSUES AND GAUCHER DISEASE

Topics:

Genes

Gaucher disease is inherited. DNA (deoxyribonucleic acid) is the material that carries the chemical "blueprint" for the body. Chromosomes are threadlike strands made of DNA molecules. Chromosomes contain specific segments of DNA called genes. Genes provide the code or instructions that determine how our bodies work.

Each person has 23 pairs of chromosomes. One chromosome in each pair comes from each parent. One pair of chromosomes determines sex. This pair is referred to as sex chromosomes. The remaining 22 pairs are referred to as autosomes.

The GBA gene, located on chromosome 1, gives the instructions for making an enzyme called glucocerebrosidase. Glucocerebrosidase breaks down or "digests" glucocerebroside. Gaucher disease can result when an individual inherits a mutation in the gene that codes for glucocerebrosidase. People who inherit mutated versions of the gene produce too little or the wrong kind of glucocerebrosidase.

Gaucher disease is recessive. This means that an individual must inherit two defective copies of the gene, one from each parent, to actually develop the disease. If one gene carries the trait and the other does not, the person is a carrier. Carriers do not have the disease but can pass the gene to their children.

Mutations

A mutation is a change in the genetic material. A piece of the gene can be missing. One piece of genetic material can be substituted for another. A piece of genetic material can be added. Several types of mutations, alone or in combination, can cause Gaucher disease. Four genetic mutations account for most cases of the disease. However, over 300 mutations that cause Gaucher have been identified.

Genotype refers to the inherited genes. Phenotype refers to the clinical features or symptoms caused by the genes. There are many genotypes that cause Gaucher disease. There is also great variability in the phenotype. Two patients with the same genotype can have different phenotypes. Knowledge about the genotype can provide some information about the disease prognosis. However, the exact course of the disease cannot be predicted based on the genotype.

Recent studies show a link between Gaucher-related GBA mutations and a neurological condition called parkinsonism or Parkinson's disease. This correlation is needs continuing study, but it is important to discuss any neurological symptoms or changes you have with your doctor.

Genetic Testing

Genetic testing analyzes a sample of tissue or fluid to determine a person's gene status. Testing may be used to:

Genetic testing can only provide information about the risk of passing a gene for Gaucher disease to an offspring. Information acquired through testing cannot provide a specific prognosis for the future of those affected.

Testing for four or five of the most common mutations will detect the mutation for Gaucher disease in greater than 90% of people of Ashkenazi Jewish background. However testing for these mutations will detect a genetic change in only 50% to 75% of the people from other ethnic groups.

Testing carries a risk for error. A false-positive result suggests gene changes when there are none. A false-negative result suggests no gene changes when they are present. Using the average false-positive and false-negative rates for testing for Gaucher disease, about 20% of carriers may be not identified. There is an even greater increased risk that the rarer mutations will be missed.

Prenatal Testing

Testing for Gaucher disease in at-risk pregnancies is possible. This testing is subject to the same limitations as testing on parents and other family members.

Amniocentesis collects a small amount of fluid from the amniotic sac for testing. The amniotic sac is a thin sac filled with fluid that surrounds the baby. When there are multiple babies, fluid from each sac is tested. This test is usually done between the 15th and 18th weeks of pregnancy.

Chorionic villus sampling (CVS) is a relatively new alternative to amniocentesis. Chorionic villus sampling uses a sample of tissue from the placenta. The chromosomes in this tissue are the same as the baby's. CVS is usually performed about 10 to 12 weeks after the last menstrual period.

References

Accordant Health Services. Core materials.


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

WHEN TO CALL THE DOCTOR

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Gaucher disease can be challenging for both patients and their families. Many problems, however, can be resolved or at least improved with the help of a healthcare professional. Generally speaking, it's a good idea to talk to a nurse or doctor about any aspect of Gaucher that causes unusual discomfort or concern. Many times, a simple suggestion or a change in medication can help make patients more comfortable. Other times, prompt medical attention is needed.

Seek medical advice when patients experience any of these problems:

Bone Pain

When Gaucher cells collect in the bones they interfere with normal blood flow. This reduced flow of blood deprives the bones of oxygen. The result can be severe pain. This is called a bone crisis or a bone infarction. The pain may last a few days or even a few weeks. The long bones and vertebrae are most commonly involved, but any bone can be affected. If a bone infarction occurs near a joint, the joint may swell. Movement may become painful. Skin over the joint may have a shiny appearance and feel warm to the touch. The patient may have a fever. A bone crisis is treated with rest and nonsteroidal anti-inflammatory medications (NSAIDs) such as aspirin, ibuprofen, ketoprofen or naproxen. NSAIDs reduce inflammation, fever and pain.

Bone pain can also occur if the patient has osteomyelitis--a bone infection. Any bone can become infected, but, as with bone infarction, the long bones and the vertebrae are most often involved. A bone infection is caused by bacteria or fungi in the bloodstream. Exposure to infecting organisms can occur with a fracture during surgery or spread from nearby tissues. An infected bone may be intensely painful. There may be swelling, tenderness and difficulty in movement. Bone infection is treated with medication to combat the responsible organism.

Fatigue

Fatigue is likely if a patient has a bone infection. Fatigue is also a common symptom of anemia. Gaucher disease leads to anemia because it speeds up the destruction of red blood cells in the spleen. Red blood cells are thus destroyed faster than they can be made. Anemia occurs when there is a lack of red blood cells to carry sufficient oxygen to the tissues.

Anemia can also be caused by a lack of iron in the blood. A doctor can determine the cause of anemia and treat the patient appropriately. Some patients need extra rest to deal with the fatigue that results from anemia.

Fever

Fever can be an indication of bone crisis. Fever often accompanies other infections as well. Patients should report fever to their doctor in accordance with their doctor's directions.

Neurological Changes

Recent studies show a link between Gaucher disease and a neurological condition called parkinsonism or Parkinson's disease. This correlation needs continuing study, but it is important to report any neurological symptoms or changes you have with your doctor.

Depression

Depression is a common complication of every chronic illness. Depression should always be taken seriously. Depression is biologically based. It is thought to be caused by an imbalance in brain chemicals.

Symptoms usually include a loss of interest in daily activities and/or feeling great sadness. Other symptoms might include:

The good news is that depression is a very treatable illness. Depression may be treated with medication, psychotherapy, or both.

References

Accordant Health Services. Core materials.

NIMH. Depression. http://www.nimh.nih.gov/publicat/depression.cfm


Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

DRUGS & CONDITIONS

EXERCISE AND GAUCHER'S DISEASE

Topics:

Exercise is important for adults and children with Gaucher disease. There are many ways exercise positively impacts the health of patients with Gaucher disease.

Weight control is enhanced by exercise. Many patients experience weight gain after they begin enzyme replacement therapy. This occurs as a result of better absorption in the gastrointestinal tract, and as a result of a better appetite. Moderate exercise three or more days a week is suggested, along with a healthy diet.

Depression is reduced by regular exercise. Exercise also helps patients feel empowered and positive about life. Those who feel less victimized by their disease find it easier to comply with their treatments.

Special Tips or Cautions:

Why You Need Exercise

People who exercise are usually healthier and happier than those who don't exercise. They are also more likely to live longer and to have a more positive outlook. For these reasons, exercise has now become an important part of the treatment plan.

The Benefits of Exercise

Regular exercise, designed around a patient's physical abilities and limitations, yields many benefits:

Types of Exercise

Exercise can be therapeutic or just for fun. A therapeutic exercise program is one designed to achieve specific health benefits for the patient. A physical therapist, occupational therapist or physician can help patients design exercise programs that are right for them. A balanced program may include three kinds of exercise:

  • Stretching exercises preserve joint function and flexibility. They also help prevent muscle stiffness and cramps. Yoga and Tai Chi are stretching exercise regimens that focus on flexibility and balance. Range of motion exercises move joints as far as they can comfortably go, and then stretch just a little further. Some types of stretching exercises can be very good for the back.
  • Strength training exercises build muscle power. There are two kinds of strength building exercises: isotonic and isometric. Isotonic exercises involve moving the joints. They may use resistance, such as weights or moving against water. Isometric exercises contract the muscles without moving the joints. Both kinds of strength building exercise help reduce body fat. They also help lower "bad" cholesterol and aid digestion. Strength building exercises become more important as we grow older and lose muscle tissue.
  • Aerobic exercises build the stamina of the entire body and strengthen the heart and lungs. Dancing, bicycling and walking are examples of aerobic exercises. Swimming does not raise the heart rate as high as other aerobic exercises, but it is ideal during. Aerobic exercise is also called endurance exercise.
  • Exercise Tips

    References

    American Heart Association. Risk Factors and Coronary Heart Disease. http://www.americanheart.org

    National Digestive Disease Information Clearinghouse. Constipation. http://www.niddk.nih.gov


    Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

    DRUGS & CONDITIONS

    BEATING STRESS

    Topics:

    Human beings experience stress as a response to change. While everyone has stress, people with a chronic illness like Gaucher disease often have more stress than healthy people do. Gaucher disease may require people to make significant changes in many, or perhaps most, areas of their lives.

    Gaucher disease has the potential to create stress in some or all of these ways:

    Coping with Stress

    It is very important for patients to learn how to cope with stress. Experts say that the key to managing stress is how we think about the things that cause stress. Patients are encouraged to distinguish between things that can and cannot be changed. When things can't be changed, the patient's thinking must change. Many people have learned to combat stress by mastering relaxation methods. Books and tapes, support groups, counseling, exercise, humor, breathing techniques and sometimes medication can help. In addition, patients can make choices that help reduce some of life's routine stresses. This starts by identifying stressors and then taking steps to reduce as much stress as possible.

    References

    Accordant Health Services. Psychosocial Aspects of Gaucher Disease. www.accordant.com

    Accordant Health Services. Who Gets Gaucher Disease? www.accordant.com

    Accordant Health Services. Body/Mind Medicine. www.accordant.com

    National Gaucher Foundation. Gaucher Disease. www.gaucherdisease.org/


    Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.

    DRUGS & CONDITIONS

    CALCIUM AND GAUCHER DISEASE

    Patients with Gaucher disease can boost their overall health by eating a highly nutritious, well-balanced diet. In addition, patients can benefit from adding extra calcium to their diets. Gaucher disease increases the risk of osteoporosis, a disease that makes the bones thin and brittle. Gaucher Disease can decrease the number of T lymphocyte cells, which alters the normal cycle of breaking down and rebuilding bone. Osteoporosis can result. To reduce this risk, patients are advised to eat a diet rich in calcium and vitamin D.

    Younger adults need 1,000 milligrams of daily calcium. Adults over 50 need 1,200 milligrams a day. If you are taking prednisone ask your doctor how much calcium you need. Extra dietary calcium helps to minimize bone loss. Vitamin D helps the body use calcium. Many people also take calcium and vitamin D supplements.

    The best food sources of calcium are:

    Calcium is also found in these foods:

    To increase calcium intake, the National Osteoporosis Foundation suggests adding nonfat powdered dry milk to foods. Dry milk can be added to pudding, homemade cookies or muffins, soup, gravy, casseroles and even the milk we drink. Most recipes, says NOF, can be supplemented with 2 to 4 tablespoons of dry milk. Each tablespoonful adds 52 milligrams of calcium.

    References

    National Dairy Council. http://www.nationaldairycouncil.org

    National Osteoporosis Foundation. http://www.nof.org/


    Last Modified Date: April 30, 2010 © Accordant Health Services, a CVS/Caremark company. All rights reserved. This article has been reviewed for accuracy by a member of the Accordant Health Services Medical Advisory Team. This information is not intended to be a substitute for professional medical advice. You should not use this information to diagnose or treat a health problem or disease without consulting with a qualified healthcare provider. Please consult your healthcare provider with any questions or concerns you may have regarding your condition. Use of this online service is subject to the disclaimer and the terms and conditions.