Curriculum · Hematology
Fanconi anaemia
What it is
Fanconi anemia is a hereditary autosomal recessive disorder due to a DNA crosslink repair defect, causing chromosomal instability and resulting in bone marrow failure. It is one of the inherited causes of aplastic anemia.
How it presents
In the bone marrow there is aplastic anemia and progressive bone marrow failure, so pancytopenia is the end point, with macrocytosis as an early finding.
- Appearance: short stature, microcephaly, abnormal thumbs and hypogonadism, with developmental delay and thumb and forearm malformations
- Skin: hypopigmented and hyperpigmented areas, café-au-lait spots and large freckles
- Eyes and ears: strabismus, low-set ears and middle ear abnormalities such as hemorrhage, incomplete development, chronic infections and deafness
Aplastic anemia with short stature or other physical abnormalities is suggestive of Fanconi anemia, and absent or hypoplastic thumbs together with pancytopenia point the same way. Congenital anomalies to note are café-au-lait spots, short stature and thumb/radial anomalies.