Definition:
First described in 1882 by French physician Philippe Gaucher, Gaucher disease is one of today's most common lysosomal storage diseases. As a result of the lack of the enzyme glucocerebrosidase, fatty materials accumulate in the brain, bone marrow, liver, lung, spleen and the kidneys. This disease is characterized by autosomal recessive inheritance, and as such, is equally likely to affect both male and female individuals.
Diagnosis:
As the disease is an autosomal recessive inheritance disease and thus hereditary, any person suspected of having the disease will likely have a positive diagnosis if other relatives were previously positively diagnosed or suspected of the same before. For those who do not have relatives who have Gaucher, difficulty in diagnosis may arise because of the variety of symptoms that one person may or may not manifest.
Treatment:
The treatment for Gaucher disease costs $550,000 annually for a single patient, and is done through the intravenous introduction of the drug Cerezyme. This treatment is to be carried on for the duration of the patient's life. Another medication, Miglustat, was approved in 2003.
Symptoms and Signs:
People who suffer from Gaucher disease will likely first show signs of brown skin pigmentation, and also signs of having developed anemia. The anemia is a result of another symptom, hypersplenism, which is the destruction of both red and white blood cells. There may also be swelling of the lymph nodes and, internally, the spleen. People with Gaucher disease are likely to develop osteoporosis, and may experience pain from bone lesions. Cardiac, pulmonary, and renal signs may also be absent.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
