Metabolism

Type 1 Gaucher's Disease

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Type 1 Gaucher's Disease, Gaucher's Disease

  • See Also
  1. Type 2 Gaucher's Disease or Type 3 Gaucher's Disease
  2. Lysosomal Storage Disease (Gangliosidosis)
  1. General population: 1:60,000
  2. Ashkenazi Jews: 1:900
  • Pathophysiology
  1. Inherited Inborn error of metabolism
  2. Disturbed Cerebroside metabolism
  3. Autosomal Recessive inheritance
  • 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
  • Symptoms
  1. Abdominal heavy feeling
  2. Bone pain (at lesion sites)
  • 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
  • Labs
  1. Complete Blood Count (CBC): Pancytopenia
    1. Anemia
    2. Leukopenia
    3. Thrombocytopenia
  • Diagnosis
  1. Leukocyte B-glucocere-brosidase assay
  2. Bone Marrow Biopsy
    1. Gaucher Cells
  • Radiology
  • Long bone XRay
  1. Localized thinning of bony cortex
  2. Femoral head erosion and compression