Fanconi anemia is a rare inherited disease characterized by bone marrow failure and a broad variety of birth defects. Bone marrow is the soft inner part of bones that makes blood cells. Because of defects in the bone marrow, individuals with Fanconi anemia have lower than normal numbers of red and white blood cells and platelets. The lack of white blood cells predisposes the patient to infections, while the lack of red blood cells can lead to anemia. Anemia can cause fatigue as a result of low levels of oxygen being delivered throughout the body. Low platelet levels in Fanconi anemia may cause problems with blood clotting, which is necessary to stop bleeding and repair the site of injury or surgical incision.
A Swiss pediatrician named Guido Fanconi reported the first case of Fanconi anemia in 1927. It is important to note that Fanconi anemia is different from Fanconi syndrome, which was also named after Dr. Fanconi. Conversely, Fanconi syndrome is a rare kidney disorder in which an individual loses nutrients through the urine.
Although Fanconi anemia is considered primarily a blood disease, it can affect all systems of the body. It has been reported that approximately 75% of individuals with Fanconi anemia have birth defects. In the remaining 25%, symptoms appear slowly throughout childhood and often lead to complete bone marrow failure.
Fanconi anemia is generally diagnosed when a patient is two to 15 years of age. In rare cases, individuals do not have symptoms until adulthood. Patients who have Fanconi anemia are usually smaller in stature than average, feel extremely fatigued, and frequently have infections. Nosebleeds or easy bruising may be the first sign of the disease. Fanconi anemia should be suspected and tested for in any infant born with malformed thumbs and arms. Anyone developing aplastic anemia, despite the individual's age or lack of visible defects, should be tested for Fanconi anemia.
The main complications of Fanconi anemia are myelodysplastic syndromes (MDS), which is a mild form of leukemia, acute myeloid leukemia (AML), and other types of cancer. Although many patients are of short stature and have skeletal anomalies, intelligence is usually normal, and education and career planning should be encouraged.
Fanconi anemia is caused by an inherited genetic defect (mutation). Mutations in at least 13 genes are known to cause Fanconi anemia. These genes include FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, and FANCN. It is still not clear exactly how these mutations cause birth defects, bone marrow failure, or cancer predisposition in Fanconi anemia.
Treatment of Fanconi anemia includes the use of medications, blood transfusions, and bone marrow transplantation. Bone marrow transplantation is the most effective treatment. Even with a bone marrow transplant, however, patients face an increased risk of developing cancer and other serious health problems throughout their lifetime. Cancer prevention and screening, frequent blood count checks, and yearly bone marrow exams are necessary. Transfusions or antibiotics can treat symptoms caused by low blood counts, such as bleeding, infections, or anemia. Individuals who develop a fever in addition to low white blood cell counts are generally treated by intravenous antibiotics under hospital supervision.
Because Fanconi anemia is inherited, there is currently no known way to prevent this condition. With proper treatment, a patient with Fanconi anemia can live to age 30 or beyond.
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