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Type 1 Gaucher's Disease
Aka: Type 1 Gaucher's Disease, Gaucher's Disease
- See Also
- Type 2 Gaucher's Disease or Type 3 Gaucher's Disease
- Lysosomal Storage Disease (Gangliosidosis)
- Epidemiology: Incidence
- General population: 1:60,000
- Ashkenazi Jews: 1:900
- Pathophysiology
- Inherited Inborn error of metabolism
- Disturbed Cerebroside metabolism
- Autosomal Recessive inheritance
- Types
- Type 1 Gaucher's: Most common
- Gastrointestinal presentation (Described below)
- Type 2 Gaucher's Disease
- Neurologic presentation
- Type 3 Gaucher's Disease (Similar to Type 2)
- Neurologic presentation
- Symptoms
- Abdominal heavy feeling
- Bone pain (at lesion sites)
- Signs
- Progressive Abdominal Distention
- Splenomegaly
- Hepatomegaly
- Conjunctiva with brown pigmentation
- Skin with brown to yellow discoloration
- Coarse facial features
- Labs
- Complete Blood Count (CBC): Pancytopenia
- Anemia
- Leukopenia
- Thrombocytopenia
- Diagnosis
- Leukocyte B-glucocere-brosidase assay
- Bone Marrow Biopsy
- Gaucher Cells
- Radiology: Long bone XRay
- Localized thinning of bony cortex
- Femoral head erosion and compression