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Fanconi Anemia

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Fanconi Anemia, Fanconi's Anemia, Diamond-Blackfan Anemia, Congenital Pancytopenia

  • Epidemiology
  1. Incidence: 1 in 60,000 to 300,000 births
  2. Diagnosis often not identified until age 2-7 years
  3. Higher Prevalence in Ashkenazi Jews (Carriers: 1 in 89)
  • Pathophysiology
  1. Autosomal Recessive
  • Signs
  1. Patchy brown Hyperpigmentation
  2. Cafe Au Lait spots
  3. Short Stature
  4. Microcephaly
  5. Hypogonadism
  6. Strabismus
  7. Renal hypoplasia
  8. Microphthalmia
  9. Mental Retardation
  10. Extra-digits or absence of digits
  11. Purpura
  • Labs
  1. Complete Blood Count
    1. Pancytopenia
  2. Chromosomal Breakage with exposure to deiepoxybutane
  • Management
  1. Corticosteroids
  2. Maintenance androgen therapy
  • Complications
  1. Malignancy (esp. Acute Myelogenous Leukemia)
  2. Bone Marrow Failure (often by 7 years of age)
  • References
  1. Lee (1999) Wintrobe's Hematology, Lippincott, p. 1473
  2. Da Costa (2001) Curr Opin Pediatr 13(1): 10-5 [PubMed]
  3. Krijanovski (1997) Hematol Oncol Clin North Am 11:1061 [PubMed]
  4. Alter (1996) Am J Hematol 53(2):99-110 [PubMed]