Pathophysiology
Fanconi anemia is a family of conditions (at least eight variants known) marked by congenital anomalies, acquired aplastic anemia, and defects in DNA repair
Signs and Symptoms
1) mulitple congenital defects occur in Fanconi anemia (especially of thumb, radius, and genitourinary tract) 2) short stature 3) cafe-au-lait spots 4) progressive pancytopenia 5) “fragile” chromosomes 6) greatly increased risk of acute myelogenous leukemia (AML)
Characteristic Test Findings of Fanconi anemia
Laboratory – pancytopenia
Associated Conditions
greatly increased risk of AML (cells have increased susceptibility to chromosomal breaks with defective DNA repair)
Biochemistry
most common subtype is Fanconi’s anemia A (mutation in FANCA gene)
Inheritance/Epidemiology
autosomal recessive
Treatment
standard protocols for aplastic anemia and AML
Tips for USMLE
1) Fanconi anemia is not the same thing as Fanconi’s syndrome (which is defective transport across the proximal renal tubule of glucose, phosphate, and electrolytes) seen in amyloid, multiple myeloma, and heavy metal poisoning 2) if question mentions an 8 year-old girl with congenital double thumb, cafe-au-lait spots, and anemia, think Fanconi anemia
Ali says
Here is a site with huge Information On Pregnancy Diseases And Genetic Testing. You can find information regarding Chromosomes in: http://sites/insidesurgery.com/files.geneticsofpregnancy.com/Encyclopedia/Chromosomes.aspx?pid=2
shashank says
Here is a link to more information about the genetics of Fanconi Anemia that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://sites/insidesurgery.com/files.accessdna.com/condition/Fanconi_Anemia/149. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA