Rare Endocrinology News
5 Facts you should know about
Gaucher’s disease
1
Gaucher's disease is an inherited lysosomal storage disorder caused by mutations in the GBA gene, leading to a deficiency of the enzyme glucocerebrosidase. This deficiency results in the accumulation of glucocerebroside in cells, particularly macrophages
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It is categorized into three main types: Type 1 (non-neuronopathic), Type 2 (acute neuronopathic), and Type 3 (subacute neuronopathic), with Type 1 being the most common and typically less severe
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Symptoms may include hepatosplenomegaly (enlarged liver and spleen), anemia, thrombocytopenia, bone pain, fractures, and in some cases, neurological complications such as seizures or movement disorders in neuronopathic types
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Diagnosis involves assessing symptoms, blood tests to measure enzyme activity and genetic testing to confirm mutations in the GBA gene, as well as imaging studies to evaluate organ enlargement or bone involvement
5
Treatment options include enzyme replacement therapy (ERT) to supplement the deficient enzyme, substrate reduction therapy (SRT), and in some cases, bone marrow transplantation for severe forms of the disease
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