Overview
Definition
An autosomal recessive lysosomal storage disorder characterized by glucocerebrosidase deficiency, leading to glucocerebroside accumulation in macrophage lysosomes.
Epidemiology
The most common lysosomal storage disease, carrier rate 1 in 10 in Ashkenazi Jews.
Etiology & Risk Factors
- GBA gene mutations
- Accumulation of lipid-laden Gaucher cells in organs
Clinical Symptoms
- Hepatosplenomegaly
- Anemia and thrombocytopenia
- Bone pain and skeletal crises
- Easy bruising
Clinical Approach
Diagnosis
- Reduced glucocerebrosidase enzyme activity in leukocytes
- Bone marrow showing 'wrinkled tissue paper' macrophages
Management
- Enzyme Replacement Therapy (ERT: Imiglucerase)
- Substrate Reduction Therapy (SRT: Miglustat)
Complications
- Avascular necrosis of bone
- Severe thrombocytopenia / Hemorrhage
- Osteoporosis