Hematology and Oncology Book

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

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  1. 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)
  2. Pathophysiology
    1. Autosomal recessive
  3. 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
  4. Labs
    1. Complete Blood Count
      1. Pancytopenia
    2. Chromosomal Breakage with exposure to deiepoxybutane
  5. Management
    1. Corticosteroids
    2. Maintenance androgen therapy
  6. Complications
    1. Malignancy (esp. Acute Myelogenous Leukemia)
    2. Bone Marrow Failure (often by 7 years of age)
  7. References
    1. Lee (1999) Wintrobe's Hematology, Lippincott, p. 1473
    2. Da Costa (2001) Curr Opin Pediatr 13(1):10
    3. Krijanovski (1997) Hematol Oncol Clin North Am 11:1061
    4. Alter (1996) Am J Hematol 53(2):99

Fanconi's Anemia (C0015625)

Definition (MSH)Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Definition (NCI)A rare and often fatal inherited disease in which the bone marrow fails to produce red blood cells, white blood cells, platelets, or a combination of these cells. The disease may transform into myelodysplastic syndrome or leukemia.
Definition (NCI)Fanconi anemia (FA) is an autosomal recessive genetic disorder characterised clinically by progressive bone marrow failure, skeletal deformities and a predisposition to neoplasia. Patient cells manifest an extreme chromosomal instability and hypersensitivity to polyfunctional alkylating agents. It is assumed that the basic defect is related to the repair of DNA damage, in particular that of so-called DNA crosslinks. Currently there are eight complementation groups in FA (FA-A-FA-H) which indicates that at least eight independent genes can lead to FA. Three of these genes have been identified: FANCA, FANCC and FANCG. (from PMID 10472548)
ConceptsDisease or Syndrome (T047)
ICD9284.09
EnglishFA, Fanconi Anemia, Fanconi Anemias, Fanconi pancytopenia syndrome, Fanconi syndrome, Fanconi's anaemia, Fanconi's Anemia, Fanconi's familial refractory anaemia, Fanconi's familial refractory anemia, Fanconi's hypoplastic anaemia, Fanconi's hypoplastic anemia, Fanconi's syndrome, Primary Erythroid Hypoplasia
Spanishanemia de Fanconi, síndrome de pancitopenia de Fanconi, sindrome de pancitopenia de Fanconi
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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