Fanconi's anemia

Fanconi's anemiaFanconi's anemia
  • Facts:
    AR, genetic disorder (chromosomal breaks, DNA repair problem) that causes congenital marrow failure, poor growth, and morphologic abnormalities

    Initial manifestation is usually thrombocytopenia, followed by neutropenia, then anemia

    Blood counts start to decrease between 4 and 12 years of age
  • History / PE:
    Short stature
    Cafe-au-lait spots, hyperpigmentation of the trunk
    Horseshoe kidneys
    "Pounding in ears"
    Radial/thumb hypoplasia/aplasia
  • Diagnosis:
    Progresssive pancytopenia and MACRO- cytosis
    Aplastic anemia
  • Treatment:
    Hematopoietic stell cell transplantation ( aplastic anemia )
  • Complications:
    Acute myelogenous leukemia (AML)
  • Differential Diagnosis:
    Aplastic anemia
    Diamond-Blackfan anemia (triphalangeal thumb, pure RBC aplasia)

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August 9th 2010