Gaucher Disease is a rare disease that is genetic and affects enzymes in the lysosome of cells. In Gaucher Disease the body is missing enzymes that would normally break down items for reuse in the cells, which leads to toxicities accumulating in the body. Gaucher disease is a genetic mutation that comes from both parents and has three different types that a patient can be categorized into. The differences in the three types are decided by the absence or presence of neurologic involvement.
Symptoms of Gaucher Disease
Symptoms of Type 1 disease include enlarged spleen, anemia or thrombocytopenia (low blood platelet count). Other symptoms may include fatigue, enlarged liver, bone pain, or fractures. Nosebleeds and bruising may occur if thrombocytopenia is present. Type 2 patients may present at birth or infancy with several side effects, seizures, enlarged organs, failure to thrive, and difficulties swallowing. Patients with type 3 can also have organ enlargement and bone pain with neurologic symptoms.
Treatment of Gaucher Disease
There is no cure for Gaucher Disease, but the most common treatment option available is enzyme replacement therapy (ERT). Drugs in this category are: imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso). Doses are usually given anywhere from three times a week to weekly to every other week, depending on how high the dose. Another treatment option for patients is Glucosylceramide synthase inhibitors, Miglustat (Zavesca) and eliglustat (Cerdelga). Common side effects of these medications are diarrhea, nausea, vomiting, muscle or skeletal weakness, headache and dizziness. There is currently no treatment available for any brain effects that can be caused by Type 2 and 3 disease. Once patients are stable on treatment follow ups should be completed every six months or as often as your doctor recommends.
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