By ACCORDANT MEDICAL CORRESPONDENT
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.
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.
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.
Accordant Health Services. Core materials.
Genzyme Corp. Living with Gaucher Disease: A guide for patients, parents, relatives and friends.
National Gaucher Foundation. Symptoms of Gaucher Disease. (http://www.gaucherdisease.org/symptoms.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.