Gaucher disease typically affects the body in many ways as a result of Gaucher cells accumulating in various organs, especially the liver, spleen, and the bone marrow. The disease’s bone-related symptoms can be particularly painful and debilitating, impairing a patient’s mobility.
Individuals with Gaucher disease who first experience disabling symptoms in adulthood may find it difficult to accept their diagnosis. They may remember a time when they could balance their careers, the demands of their family, and their social lives.
Adults with Gaucher disease may have difficulty accepting that they have a chronic illness. Some may deny that their symptoms are as bad as they are; others may refuse to seek help.
Short-term denial is a normal reaction to the surprise, fear, and uncertainty surrounding a new diagnosis. Denial can be helpful to some individuals by allowing them to carry on with normal activities. However, long-term denial can be dangerous in dealing with the diagnosis and management of Gaucher disease, especially if denial prevents or delays a person from seeking proper medical care. Such delays can result in further progression of the disease, worsening of symptoms, and potentially irreversible damage to the body.
Adults with Gaucher disease and their families can get help in dealing with their emotions by using the many resources available to them. Please view Resources for more information.
The diagram below illustrates how Gaucher disease affects various part of an adult’s body. Please move your cursor over the various signs and symptoms of Gaucher disease in adults.
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1. Enlarged liver and/or spleen
Gaucher patients may have protruding abdomens, caused by the liver and/or spleen swelling to unusual sizes because of accumulated Gaucher cells within the organs. The spleen can swell to greater than 15 times its normal size, while the liver can swell to 2.5 times its normal size.
These symptoms can have many other effects on patients, including appetite suppression (the enlarged organs press on the stomach and create the sensation of feeling full), blood-related problems, more serious liver disease, and low self-esteem related to appearance.
2. Low blood platelet count
Platelets are the blood cells responsible for blood clotting; they are formed in bone marrow and then released into the blood. A build-up of Gaucher cells in bone marrow may cause fewer blood platelets to be produced. In addition, an enlarged, overactive spleen may break down blood cells faster than they are produced, thus also contributing to an overall lower platelet count. As a result, Gaucher patients’ blood may not clot well, and they may experience excessive bruising and bleeding, such as frequent nosebleeds, bleeding gums, and longer, heavier menstrual periods.
3. Low red blood cell count (anemia)
Red blood cells are responsible for carrying oxygen to all cells in the body. The spleen is responsible for breaking down these cells, but when it is enlarged, it may become overactive and break down blood cells faster than they are produced. The resulting red blood cell deficiency is called anemia, and it causes people to feel fatigued because the body is not getting enough oxygen. While anemia is often responsible for fatigue and low stamina in Gaucher patients, these symptoms may also result from a higher-than-normal metabolism found in many suffering from Gaucher disease.
Adults with Gaucher disease may have to learn to pace themselves to combat fatigue. Ordinary activities may require more effort for an adult with Gaucher disease, and may have an impact on qualtify of life. Speaking with your physician about measuring your quality of life is important. Please view Quality of Life for more information.
4. Low white blood cell count
White blood cells are responsible for helping fight infection, such as when bacteria or viruses enter the body. The spleen is responsible for filtering these cells, but when it is enlarged as a result of accumulated Gaucher cells, it may become overactive and filter white blood cells faster than usual. The resulting white blood cell deficiency makes it harder for the body to fend off infection, so Gaucher patients may get infections more frequently than other people.
5. Bone crisis
Gaucher patients may experience severe bone pain, called “bone crisis,” caused by insufficient blood circulation to the bone due to interference from Gaucher cells and by the local release of chemical factors. The pain is intense, often accompanied by fever, and can last from a few hours to a few days or even weeks, usually rendering patients bedridden during this time. Hospitalization may also required.
6. Bone tissue death
As Gaucher cells accumulate in bone marrow, they can restrict normal blood flow - sometimes to the point that bone tissue dies. This bone destruction causes severe pain and can lead to fractures and joint collapse.
7. Bone thinning
Gaucher disease causes reduced mass and density of bone tissue, causing it to thin and weaken and thus be more susceptible to fractures.
8. Pathological fracture
Pathological fractures are broken bones caused by disease rather than by trauma (such as impact from a fall or accident). The accumulation of Gaucher cells in bone marrow can weaken bones in various ways, making them susceptible to such fractures resulting simply from normal activity.
9. Erlenmeyer flask deformity
Gaucher disease includes abnormalities in the way bones develop, or remodel, resulting in irregular shapes. The most common among Gaucher patients is the Erlenmeyer flask deformity, named after the type of laboratory flask whose shape it resembles. The ends of the bone, most commonly the femur and tibia, develop a flared, flattened shape rather than the normal rounded form.