Fanconi anemia is a disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells. Fanconi anemia is different from Fanconi syndrome, a rare kidney disorder. Most people with Fanconi's anemia have some of these symptoms:
• Abnormal heart, lungs, and digestive tract
• Bone problems (especially the hips, spine or ribs, can causes a curved spine (scoliosis)
• Changes in the color of the skin, such as darkened areas of the skin, called café au lait spots, and vitiligo
• Deafness due to abnormal ears
• Eye or eyelid problems
• Kidney(s) that did not form correctly
• Problems with the arms and hands, such as missing, extra or misshapen thumbs, problems of the hands and the bone in the lower arm, and small or missing bone in the forearm
• Short height
• Small head
• Small testicles and genital changes
Other possible symptoms:
• Failure to thrive
• Learning disability
• Low birth weight
• Intellectual disability
HOW IS FANCONI ANEMIA DIAGNOSED?
Diagnosis of Fanconi Anemia is conducted through complete blood count tests. General physicians may order for the following tests:
• Bone marrow biopsy
• Developmental tests
• Check for damages chromosomes
• Hand X-ray
• CT Scan and MRI
• Hearing test
• Ultrasound of kidneys
HOW IS FANCONI ANEMIA TREATED?
Patients with mild to moderate blood cell changes who do not need a transfusion may only need regular check-ups and blood count checks. Medicines called growth factors (such as erythropoietin, G-CSF, and GM-CSF) can improve blood counts for a short while. A bone marrow transplant can cure the blood count problems of Fanconi's anemia. (The best donor is a brother or sister whose tissue type matches the patient.)
Hormone therapy combined with low doses of steroids (such as hydrocortisone or prednisone) is prescribed to those who do not have a bone marrow donor. Most patients respond to hormone therapy. But everyone with the disorder will quickly get worse when the drugs are stopped. In most cases, these drugs eventually stop working. Additional treatments may include:
1. Antibiotics (possibly given through a vein) to treat infections
2. Blood transfusions to treat symptoms due to low blood counts
Also ayurvedic and homeopathic medications are used to treat this condition
DID YOU KNOW?
This is a life-threatening disease and could result in death if not treated correctly.