Endocrinology Book


Type 1 Gaucher's Disease

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

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