Fanconi Anemia (FA)

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Individuals with FA often have physical abnormalities and their laboratory findings include bone marrow failure, increased chromosome breakage in cells grown in the presence of a chemical which damages DNA. Bone marrow failure is not required for the diagnosis, and ~25% of all persons eventually diagnosed as being affected by FA do not have the typical FA findings on physical examination. FA has been diagnosed at ages ranging from birth to >50 years of age. Males and females are affected equally.

What are the major findings on physical examination

Short stature
Abnormal thumbs sometimes accompanied by abnormalities in the bones of the lower arm
Café au lait spots (flat, brown birth marks)
Small head, small eyes
Abnormal kidneys
Abnormal male genitalia
Infertility

What is the age at diagnosis?

Anytime from birth to more than 50 years of age
The diagnosis is usually made between 6 and 10 years of age.

What is the natural progression of bone marrow failure in individuals with FA?

Bone marrow failure means the number of blood cells is too low because the bone marrow has stopped producing enough mature cells.
Some people with FA live for years without bone marrow failure while others develop symptoms earlier.
Individuals with FA typically start with low blood counts in one of these types of cells, and then progress to low counts in two or more types of blood cells (also known as aplastic anemia):
- Low red blood cell count (anemia)
- Low platelet count (thrombocytopenia)
- Low white blood cell count (leukopenia)

What types of cancer are individuals with FA at higher risk of developing?

Leukemia (cancer of the blood and bone marrow)
Mouth, tongue and throat ("head and neck")
Female genitals, particularly labial and cervical cancer ("gynecologic")
Esophagus and anal ("gastrointestinal")
Brain tumors
Liver

How is FA specifically diagnosed?

The chromosome breakage test
- The patient’s blood cells are treated in the laboratory with a chemical which damages (breaks) DNA
- The breaks are large enough to be seen under a microscope, and are counted
Genetic testing

Genetics

Laboratories can now identify the specific disease-causing genetic variant in people with FA.
There are at least 22 different genes important in DNA repair that are responsible for FA. FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1/BACH, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/ERCC4/XPF, FANCR/RAD51, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, FANCV/MAD2L2/REV7, and FANCW/RFWD3.
The disease is primarily inherited in an autosomal recessive manner. This means that illness occurs only if a person has a disease-causing genetic variant in both copies of same gene. One abnormal gene is inherited from each parent. Individuals like the parents, who have only one copy of the abnormal gene, are called "gene carriers."
FANCB is X-linked, requiring inheritance of an abnormal genetic variant from the mother only. Only boys are affected. FANCR is autosomal dominant meaning only one abnormal gene variant in FANCR is required for disease.