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Gaucher Disease

Gaucher Disease

Gaucher disease is a very rare genetic disorder, which is probably why you might not have heard of it yet. Gaucher disease is a genetic disorder caused by someone lacking the enzyme glucocerebrosidase. Only about 1 in 50,000 to 100,000 in the world have this rare disorder so its exact causes are mostly unknown, though it is passed down from the mother or father. There is no cure for the disease but different treatment options are available.

Causes of Gaucher Disease

Gaucher disease is a rare disease and can only be passed down from the mother or father to the child in order for it to develop. A parent may not have the disease, but carry an abnormal copy of the Gaucher gene which can also cause the disease in their child. When someone has a low amount of the glucocerebrosidase enzyme in their system, it can cause harmful substances to build up in the spleen, bones, liver, or bone marrow and will prevent organs from working. There are three types of Gaucher Disease with type 1 being most common and affecting the bones and spleen mostly.

Symptoms of Gaucher Disease

The type of Gaucher disease someone has will cause a different range of symptoms. Typically, these include cognitive impairment, easy bruising, bone pain or fractures, enlarged spleen or liver, fatigue, heart valve issues, lung disease, seizures, severe swelling, and skin changes.

Diagnosing Gaucher Disease

The diagnosis for Gaucher Disease will start with a physical examination, as with most other medical conditions. Your doctor will look for changes in your liver, spleen, bones, lungs, eye movement, heart, or hearing loss. Some of the tests your doctor might perform include a bone marrow aspiration, blood test to look for enzyme activity, biopsy of your spleen, MRI, CT scan, x-ray, or genetic testing.

Treating Gaucher Disease

In some cases, treating Gaucher Disease is as simple as treating the different symptoms or side effects and keeping you comfortable as there is no cure for the disease. You may also get enzyme replacement therapy, mostly to prevent further damage from the disease. In the rare severe cases, a patient will need to have a bone marrow transplant. Your prognosis depends on the type of disease you have and how old you are when symptoms occur. Children under 5 who are showing signs of Gaucher Disease often don’t survive it. Possible complications from Gaucher Disease include anemia, seizures, bone problems, and thrombocytopenia.
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