Fanconi anemia

Causes and diagnosis

FA most often follows an autosomal recessive inheritance pattern, though some forms can be inherited differently. Laboratory diagnosis frequently relies on chromosomal breakage tests that expose cells to cross-linking agents; excessive chromosome breakage supports the diagnosis. Molecular genetic testing can identify pathogenic variants in specific FANC genes and is useful for carrier testing and family planning.

Signs, complications and management

Congenital physical features may accompany FA, such as short stature, abnormal skin pigmentation, and limb or thumb differences. Importantly, affected individuals face a higher lifetime risk of certain cancers, including leukemia and solid tumors in the head and neck. Management focuses on monitoring and treating bone marrow failure and preventing or treating malignancies.

• Supportive care: transfusions and infection prevention.
• Medical therapies: androgens or growth factors can be used in selected cases to boost blood counts.
• Curative option: hematopoietic stem cell transplantation for severe bone marrow failure.
• Investigational: gene therapy and targeted approaches are under study.

History, distinctions and notable facts

The disorder was first described by the Swiss pediatrician Guido Fanconi in 1929. Fanconi anemia should not be confused with Fanconi syndrome, which is a distinct disorder of kidney tubule function. Because FA affects DNA repair, persons with the condition are especially sensitive to agents that damage DNA and are monitored closely for early signs of cancer.

Further resources

For additional background and patient-oriented information, consult reputable sources and genetic counseling services. Relevant reading and help can be found via these links: overview and genetics, clinical management, diagnostic testing, support and advocacy, and information distinguishing Fanconi syndrome.