Fanconi anemia is a rare disorder characterized by progressive bone marrow failure, various congenital abnormalities, and predisposition to malignancies (often acute myeloid leukemia). Bone marrow failure usually results in decreased production of all blood cells. It is considered the commonest type of inherited marrow failure syndrome 7,11. It is almost invariably inherited in an autosomal recessive pattern.
Fanconi anemia should not be confused with Fanconi syndrome which is a renal disease.
The estimated incidence is ~1:35,000 births. There may be a higher frequency in Ashkenazi Jews and Afrikaners in South Africa. There might also be a slight male predilection.
Associations
-
horseshoe kidney 6
- endocrine abnormalities
- hepatic tumors 12
- squamous cell carcinomas
- esophagus
- vulva
- oropharynx 12
Genetics
It is mostly transmitted by autosomal recessive inheritance (>99%).
Classification
At least 13 genetic subtypes are described:
- type a
- type b
- type c
- type d1
- type d2
- type e
- type f
- type g
- type i
- type j
- type l
- type m
- type n
Although non-specific, commonly described features include:
Treatment and prognosis
The main cause of mortality is from marrow failure. Treatments include transfusion of blood products and bone marrow transplants. As most cases are inherited, genetic counseling is important.
History and etymology
First described by a Swiss pediatrician, Guido Fanconi (1892-1979), in 1927 8,9.
{"containerId":"expandableQuestionsContainer","displayRelatedArticles":true,"displayNextQuestion":true,"displaySkipQuestion":true,"articleId":13077,"mcqUrl":"https://radiopaedia.org/articles/fanconi-anaemia/questions/1797?lang=us"}
- 1. De kerviler E, Guermazi A, Zagdanski AM et-al. The clinical and radiological features of Fanconi's anaemia. Clin Radiol. 2000;55 (5): 340-5. doi:10.1053/crad.2000.0445 - Pubmed citation
- 2. Juhl, John H.; Wesenberg, Richard L.; Gwinn, John L. Radiology. doi:10.1148/89.4.646
- 3. Glanz A, Fraser FC. Spectrum of anomalies in Fanconi anaemia. J. Med. Genet. 1982;19 (6): 412-6. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 4. De araujo MR, De oliveira ribas M, Koubik AC et-al. Fanconi's anemia: clinical and radiographic oral manifestations. Oral Dis. 2007;13 (3): 291-5. doi:10.1111/j.1601-0825.2006.01282.x - Pubmed citation
- 5. Kannan K, Dennison D, Nusrat N. Fanconi's anaemia. Br. J. Haematol. 2003;122 (4): 521. - Pubmed citation
- 6. Tischkowitz MD, Hodgson SV. Fanconi anaemia. J. Med. Genet. 2003;40 (1): 1-10. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 7. Kook H. Fanconi anemia: current management. Hematology. 2005;10 Suppl 1 : 108-10. doi:10.1080/10245330512331390096 - Pubmed citation
- 8. Lobitz S, Velleuer E. Guido Fanconi (1892-1979): a jack of all trades. (2006) Nature reviews. Cancer. 6 (11): 893-8. doi:10.1038/nrc2009 - Pubmed
- 9. Fanconi G. Familiäre infantile perniziosaartige Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung (Wien) 1927;117: 257–280.
- 10. Giri N, Batista DL, Alter BP, Stratakis CA. Endocrine abnormalities in patients with Fanconi anemia. (2007) The Journal of clinical endocrinology and metabolism. 92 (7): 2624-31. doi:10.1210/jc.2007-0135 - Pubmed
- 11. Tischkowitz MD, Hodgson SV. Fanconi anaemia. Journal of Medical Genetics 2003;40:1-10. BMJ Journals
- 12. Alter BP. Fanconi's anemia and malignancies. (1996) American journal of hematology. 53 (2): 99-110. doi:10.1002/(SICI)1096-8652(199610)53:2<99::AID-AJH7>3.0.CO;2-Z - Pubmed
Promoted articles (advertising)