What Is Fanconi Anemia?
Fanconi anemia is a rare hereditary disorder passed down through families and mainly affects the bone marrow and other body parts. It leads to reduced production of all blood cell types. It is the most common hereditary form of aplastic anemia (a condition in which no new blood cells are produced by the body). Fanconi anemia should not be confused with Fanconi syndrome, a rare kidney disorder.
What Are the Causes of Fanconi Anemia?
Fanconi anemia occurs due to a genetic mutation that causes damage to the cells, which prevents them from repairing the damaged DNA (deoxyribonucleic acid).
It is an autosomal recessive disorder. To inherit fanconi anemia, a person must receive one copy of the abnormally mutated gene from each parent. The condition is most commonly diagnosed in young children between three to 14 years old.
What Are the Symptoms of Fanconi Anemia?
People suffering from Fanconi anemia have fewer white blood cells, red blood cells, and platelets. Therefore, the symptoms are manifested accordingly.
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Tiredness.
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Increased susceptibility to infections.
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Skin pallor.
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Shortness of breath.
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Increased heart rate.
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Persistent headaches.
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Excessive bleeding.
Most patients suffering from Fanconi anemia exhibit some of these symptoms:
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Abnormal functioning of the heart, lungs, bones, and intestines.
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A curved spine (scoliosis) due to bone problems.
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Changes in the skin color lead to darkened areas of the skin, causing cafe au lait spots (coffee with milk-like pigmentation) and vitiligo (loss of skin pigmentation at a few places).
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Hearing impairment due to abnormal ears.
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Ocular problems cause impaired vision.
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Renal problems due to abnormal kidney development.
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Missing, extra, or abnormal thumbs or bones of the upper and lower limbs.
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Retarded growth causes short height.
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Small head.
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Small testicles due to abnormal development of genitalia.
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Learning disability.
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Mental confusion.
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Low birth weight infants.
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Mentally retarded.
What Are the Diagnostic Tests for Fanconi Anemia?
The healthcare professional may suggest certain diagnostic tests for Fanconi anemia, including
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Biopsy of the bone marrow.
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Complete blood count.
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An infant development scale test is done to diagnose developmental delays in children.
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Sensory-motor tests.
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Speech and hearing tests.
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Neuropsychological tests are done to measure how well the person's brain is working.
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Early screening.
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Developmental profiles.
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Early learning profiles assessment in infants and children.
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Tests to check chromosomal damage.
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X-ray of the hands.
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Computed tomography.
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Magnetic resonance imaging.
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Human leukocyte antigen tissue typing (to identify the best match for bone-marrow donors).
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Ultrasonography of the kidneys.
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Prenatal amniocentesis (a small sample of cells from the amniotic fluid are removed and tested to detect fetal abnormalities) to diagnose the disorder in the fetus.
What Is the Treatment of Fanconi Anemia?
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Patients with mild to moderate cell changes in their blood do not require a blood transfusion. Regular check-ups and checks on their blood count are sufficient for such cases.
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It is important to monitor the patient for other tumors closely by the healthcare professional. The tumors may include leukemia (cancer of the white blood cells) or tumors of the head and neck.
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It is observed that medicines known as growth factors (such as erythropoietin, granulocyte colony-stimulating factor, and granulocyte or macrophage colony-stimulating factor) can improve blood cell count in patients for a short period of time.
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Bone marrow transplantation can be considered a treatment modality to cure the blood count problems in Fanconi anemia. A brother or sister is the best bone marrow donor if the tissue type matches the patient affected by Fanconi anemia.
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Hormone therapy and low doses of corticosteroids (such as Hydrocortisone or Prednisone) are advised for those who cannot find a bone marrow donor. Most patients respond to hormone therapy.
Additional treatments involved are
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Systemic antibiotics (mainly given through a vein) to cure infections.
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Blood transfusions to minimize the symptoms of low blood cell counts.
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Human papillomavirus vaccine administration.
What Is the Prognosis of Fanconi Anemia?
The prognosis of this disease varies from person to person. People with low blood counts have a poor prognosis. Newer and more effective treatments, such as bone marrow transplantation, have improved the outlook of such patients. Patients suffering from Fanconi anemia are more likely to develop various blood disorders. These include leukemia, myelodysplastic syndrome (a group of disorders characterized by disrupted production of blood cells), and head, neck, or urinary system tumors.
Women suffering from Fanconi anemia who become pregnant should be monitored carefully by a healthcare professional. Such women often need blood transfusions throughout pregnancy. Men diagnosed with Fanconi anemia usually exhibit decreased fertility.
What Are the Possible Complications of Fanconi Anemia?
The possible complications of Fanconi anemia may include the following:
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Bone marrow failure.
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Blood tumors.
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Benign and malignant liver cancers.
How to Prevent Fanconi Anemia?
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Genetic counseling should be done for families suffering from a history of this condition to understand their risk better.
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Vaccination can be carried out to reduce certain risks, including pneumonia, hepatitis, and varicella viral infections.
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People suffering from Fanconi anemia should avoid exposure to cancer-causing substances (carcinogens).
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Affected patients should have regular check-ups for cancer and disease screening.
Conclusion:
Fanconi anemia is a rare, inherited disease characterized by the failure of the bone marrow. It also affects other parts of the body. Diagnostic tests should be carried out promptly to identify the disease and start the treatment. Regular health check-ups, genetic counseling, vaccination, and carcinogen exposure prevention are some preventive measures that should be taken to avoid the risk of developing the disease.
