Type 1 Gaucher's Disease

Aka: Type 1 Gaucher's Disease, Gaucher's Disease

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II. Epidemiology: Incidence

  1. General population: 1:60,000
  2. Ashkenazi Jews: 1:900

III. Pathophysiology

  1. Inherited Inborn error of metabolism
  2. Disturbed Cerebroside metabolism
  3. Autosomal Recessive inheritance

IV. 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

V. Symptoms

  1. Abdominal heavy feeling
  2. Bone pain (at lesion sites)

VI. 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

VII. Labs

  1. Complete Blood Count (CBC): Pancytopenia
    1. Anemia
    2. Leukopenia
    3. Thrombocytopenia

VIII. Diagnosis

  1. Leukocyte B-glucocere-brosidase assay
  2. Bone Marrow Biopsy
    1. Gaucher Cells

IX. Radiology: Long bone XRay

  1. Localized thinning of bony cortex
  2. Femoral head erosion and compression

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