Medication Summary
Fanconi anemia is one of the few forms of aplastic anemia in which the response to androgens is more than 50%. Hematopoietic growth factors are occasionally helpful in Fanconi anemia.
Androgenic agents
Class Summary
These enhance the production and urinary excretion of erythropoietin in anemias caused by bone marrow failure and often stimulate erythropoiesis in anemias caused by deficient red blood production. They appear to make hematopoietic stem cells more responsive to differentiation, but the exact mechanism is not clear. The usual agent in the United States is oral oxymetholone, a 17-beta-hydroxylated androgen.
Although oral androgens have a risk of liver toxicity, they are easier to use in children than parenteral androgens. The lowest effective dose should be used. Recent studies suggest that the less potent androgen, danazol, may be effective in delaying the onset of clinically significant cytopenias in patients with Fanconi anemia.
Oxymetholone (Anadrol-50)
This is an anabolic and androgenic derivative of testosterone in an oral formulation.
17 Alpha-ethynyl testosterone (Danazol, Danocrine)
A parenteral fat-soluble androgen has been studied experimentally and is sometimes selected because it is less virilizing, although the results of a large ongoing trial are not published. The risk of hepatic tumors compared with other androgens has not been determined. As with oxymetholone, the lowest effective dose should be used.
Antifibrinolytic agents
Class Summary
These agents may decrease bleeding, particularly oral mucosal bleeding, in patients with thrombocytopenia by stabilization of thrombi.
Aminocaproic acid (Amicar)
This medication competitively inhibits activation of plasminogen to plasmin.
Hematopoietic growth factors
Class Summary
These factors are glycoproteins that act on hematopoietic cells by binding to specific cell surface receptors and stimulating proliferation, differentiation, commitment, and some end cell functional activation.
Filgrastim (G-CSF, Neupogen)
Filgrastim is a G-CSF that activates and stimulates the production, maturation, migration, and cytotoxicity of neutrophils.
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A 3-year-old patient with Fanconi anemia. Note the multiple birth defects, including short stature, microcephaly, microphthalmia, epicanthal folds, dangling thumbs, site of ureteral reimplantation, congenital dislocated hips, and rocker bottom feet. (Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th ed. Philadelphia, PA: WB Saunders, Inc, 1993: 216-316.)
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The 3-year-old patient with Fanconi anemia seen in the previous image. (Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th ed. Philadelphia, PA: WB Saunders, Inc, 1993: 216-316.)
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Café au lait spot and hypopigmented area in a 3-year-old patient with Fanconi anemia. Same patient as in the previous images. (Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th ed. Philadelphia, PA: WB Saunders, Inc, 1993: 216-316.)
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Thumbs attached by threads on a 3-year-old patient with Fanconi anemia (same patient as in the previous images). (Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood, 4th ed. Philadelphia, PA: WB Saunders, Inc, 1993: 216-316.)
