What is Gaucher Disease?
Presence of a Buildup of Fatty Substances
Gaucher disease is a rare inherited disorder that results from the buildup of fatty substances called glycolipids in certain cells within the body. This buildup is caused by a deficiency in the enzyme glucocerebrosidase, which normally breaks down these fatty substances. The buildup causes damage and dysfunction in these cells, which primarily affects the spleen, liver, bone marrow, brain, and/or other organs and tissues.
Symptoms of Gaucher Disease
Symptoms Vary Depending on Type
The symptoms of Gaucher Disease Treatment can vary significantly depending on the type. In general, symptoms may include fatigue, bruising easily, enlarged spleen or liver, reduced red blood cell count (anemia), reduced platelet count (thrombocytopenia), and bone problems including pain, fractures, or deformities. Type 1 Gaucher disease is the most common type and symptoms tend to develop slowly over time. Type 2 and 3 usually present more severe symptoms, often in childhood.
Diagnosis and Testing
Diagnosis is Confirmed Through Enzyme and Genetic Testing
A diagnosis of Gaucher disease is confirmed through a series of tests, including enzyme testing of a small blood sample. Levels of glucocerebrosidase enzyme activity are measured, with low or no activity confirming a diagnosis. Genetic testing of a blood sample can also be done to check for mutations associated with Gaucher disease in the GBA gene that produces the glucocerebrosidase enzyme. Additional tests such as imaging scans and bone marrow biopsies may be done to determine severity and organ involvement.
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