From a genetic point of view, this form of aplastic anemia is heterogeneous: so far, 15 genes involved in its onset have been identified.
Fanconi anemia is usually transmitted as an autosomal recessive trait, although rare forms with X-linked transmission are known.
In a smaller percentage of cases, Fanconi anemia can lead to alterations of the urogenital system (renal aplasia, hypogonadism and menstrual irregularities), gastrointestinal malformations (esophageal atresia) and interventricular (VSD) and atrial septal (ASD) heart defects.
Other manifestations include microcephaly, learning disabilities, hydrocephalus, and neural tube defects. Fanconi anemia can also be associated with endocrinopathies, including glucose intolerance, hypothyroidism, reduced response to growth hormone (GH) and hyperinsulinism.
When congenital malformations are not evident, Fanconi anemia often remains silent until an acute infection or inflammatory disease occurs (generally at school age), which causes peripheral pancytopenia. With the resolution of the subsequent pathology, the peripheral values return to normal, although the medullary cell mass is reduced.
The diagnosis is made starting from the clinical observation of any malformations and the finding of bone marrow failure and other haematological anomalies. Upon cytogenetic examination, the patients’ cells show evident chromosomal instability (presence of breaks and other alterations).
At the moment, the only curative treatment for Fanconi anemia is the transplant of bone marrow or hematopoietic stem cells from a compatible donor.
Symptoms and signs of Fanconi anemia
Fanconi anemia is characterized by the presence of various symptoms which may include:
Common symptoms of Fanconi anemia
Rarer symptoms of Fanconi anemia
This guide is in no way intended to replace the opinion of doctors or other healthcare professionals responsible for the correct interpretation of symptoms, to whom we refer to obtain a more precise indication of the origins of any symptom.