The first sign that something was amiss was the nosebleeds that started at age four. By the time Erin, the oldest of three children, was eight, she was the shortest kid in her class. Persistent digestive problems caught her pediatrician’s attention. After an exhausting six-month round of tests, doctors diagnosed the child as suffering from Fanconi’s anemia.
This disorder takes its name from a Swiss pediatrician, Guido Fanconi, according to the Fanconi Anemia Research Fund. The illness occurs with equal frequency in males and females. It strikes all ethnic groups.
Doctors consider Fanconi’s anemia a rare condition. One factor that distinguishes it from other blood disorders is that it’s associated with 14 distinct genes.
The disease is genetic in origin and affects the patient’s bone marrow, causing lowered production of all types of blood cells. It’s sometimes mistaken as Fanconi syndrome, an unusual kidney disorder that’s unrelated, MedlinePlus reports. The illness is a recessive genetic disorder. If both parents carry one of the gene mutations associated with it, each child has a 25 percent chance of inheriting the defective gene from both parents and subsequently suffering from the disease.
Signs and Symptoms
Doctors typically diagnose Fanconi’s anemia in children between the ages of 2 and 15. However, symptoms such as missing extremities or digits might be present at birth.
The most common signs of Fanconi’s anemia include short height, a small head, small testicles in males and structural irregularities in the arms and hands. Many patients lack a sufficient number of white blood cells and platelets. This causes infections and excessive bleeding, respectively.
Although it’s a blood disease, the disorder can affect virtually all systems of the body. Most affected individuals experience bone marrow failure, which necessitates a bone marrow transplant. Patients have an extremely elevated risk for developing a number of types of cancer as early as their twenties. Many don’t live to be adults.
Unfortunately, many patients with this disorder never get a correct diagnosis. For others, the diagnosis can take months or even years.
Many patients with mild or even moderate blood cell alterations often don’t need transfusions and can get by with regular blood counts and exams. Doctors usually monitor them very closely, however, for leukemia and cancers of the neck, head and urinary system.
For some individuals, growth factor medications like erythropoietin improve blood counts for a time. However, the only way to cure the problems associated with low blood count for Fanconi’s anemia is a bone marrow transplant. Physicians continue to monitor individuals who receive transplants because of their continued risk of developing various types of cancer.
For those who have no bone marrow donor, the preferred treatment is hormone therapy in combination with corticosteroids like prednisone. Most patients respond to hormone therapy to a degree, but the majority of these drugs eventually stop working. Antibiotics are the standard treatment for infections. Administering vaccinations to patients with this illness reduces the risk of certain complications like pneumococcal pneumonia, hepatitis and varicella infections.
The medical team treating a patient with Fanconi’s anemia typically includes a hematologist, endocrinologist, ophthalmologist, orthopedist, gynecologist if the patient is a female and a kidney disease specialist. Pregnant women with this disorder need to be closely monitored and frequently require transfusions throughout the pregnancy. Male patients often experience decreased fertility.
Surival rates among individuals with Fanconi’s anemia vary considerably. The outlook is generally poor for patients with low blood counts, although bone treatments have boosted survival statistics. Because of the genetic basis of the disorder, doctors often recommend that families with a Fanconi’s member seek genetic counseling to better understand the risk factors tied to inheritance.