Fanconi Anemia

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Fanconi Anemia Symptoms & Diagnosis

Fanconi anemia (FA) usually is diagnosed in children before they are 12 years old, although a diagnosis in adults is also possible. People with FA are usually smaller in stature, but not always. If they have low blood counts, they may feel extreme fatigue and have frequent infections. Easy bruising may be a first sign of the disease. Blood tests may reveal a low white blood cell, red blood cell, or platelet count or other abnormalities. Sometimes myelodysplasia, acute myeloid leukemia, or squamous cell carcinoma is the first sign of FA.

Symptoms include:

  • Anemia
  • Bone marrow failure
  • Birth defects in the bones, eyes, ears, skin, kidneys, heart, and other organ systems
  • Developmental or eating problems
  • Low birth weight
  • Poor appetite or other digestive problems
  • Slower growth than other children
  • Lower than normal height
  • Small head size
  • Mental retardation or learning disabilities

Some FA patients have a growth hormone deficiency that can be treated with growth hormones. Others may develop hypothyroidism, abnormal glucose tolerance, and diabetes mellitus. An endocrine evaluation will help determine if treatable causes are responsible for poor growth.

Diagnosis

Patients with FA usually show blood complications in the first 10 years of life. The definitive test for FA is a chromosome breakage test. In the laboratory, the patient's blood cells are treated with a chemical that cross-links DNA. Normal cells are able to correct most of the damage and are not severely affected. FA cells show marked chromosome breakage. These tests can be performed prenatally on cells from chorionic villi (part of the sac that surrounds the embryo) or from the amniotic fluid.

Since many FA patients show no overt signs of their disease, FA should be considered in patients with aplastic anemia, even if no other defects are present. Also, since FA is an inherited disease, children should be tested if one of their brothers or sisters has the disease.