Fanconi anemia
| Fanconi anaemia | |
|---|---|
| Synonyms | English /fɑːnˈkoʊni/, /fæn-/ |
| Classification and external resources | |
| Specialty | hematology |
| ICD-10 | D61.0 |
| ICD-9-CM | 284.0 |
| OMIM | 227650 |
| DiseasesDB | 4745 |
| MedlinePlus | 000334 |
| eMedicine | ped/3022 |
| MeSH | D005199 |
| GeneReviews | |
| Orphanet | 84 |
Fanconi anaemia (FA) is a rare genetic disease. Among those affected the majority develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40. About 60–75% of people have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of people have some form of endocrine problem, with varying degrees of severity.
FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair.
Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long-term treatment is bone marrow transplant if a donor is available. Because of the genetic defect in DNA repair, cells from people with FA are sensitive to drugs that treat cancer by DNA crosslinking, such as mitomycin C. The typical age of death was 30 years in 2000.
FA occurs in about 1 per 130,000 births, with a slightly higher frequency in Ashkenazi Jews in Israel and Afrikaners in South Africa. The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi. It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi.
During childhood, short stature and skin pigmentation, including café au lait spots, may become apparent. The first sign of a hematologic problem is usually petechiae and bruises, with later onset of pale appearance, feeling tired, and infections. Because macrocytosis usually precedes a low platelet count, patients with typical congenital anomalies associated with FA should be evaluated for an elevated red blood cell mean corpuscular volume.
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