Inside your bones is a flexible, spongy network of connective tissue called bone marrow. It makes oxygen-carrying red blood cells, disease-fighting white blood cells, and blood-clotting platelets. But sometimes bone marrow can fail. One of the reasons for this breakdown is a genetic condition called Fanconi anemia, also known as FA.
FA prevents your bone marrow from working properly and producing healthy blood cells, a condition known as aplastic anemia. It’s responsible for a variety of physical and mental birth defects, including skeletal issues and unusual skin coloring.
If you have FA, your chances of developing certain cancers, including a blood cancer called acute myeloid leukemia (AML), go up. And FA can make you weak and lower your ability to fight disease. The effects of FA can even make your organs shut down.
How Do You Get FA?
FA is a recessive genetic disorder, which means to get it, you have to inherit the abnormal gene from both parents. At least 13 faulty genes can cause it, so you can inherit any of these mutated genes to get FA.
To be a carrier of FA, you have to inherit one normal gene and one abnormal gene from your parents. For your child to get FA, both you and the other parent must pass on a defective gene.
If you don’t have Fanconi anemia, chances are you not going to get it. The disease is rare and is usually first diagnosed in children between ages 2 and 15. Only 10% of people that have it are diagnosed in adulthood.
Symptoms and Diagnosing
Doctors are often able to diagnose FA early because of the physical problems it can cause, including:
- Abnormal genitalia
- Misshapen thumbs or forearms
- Short stature
- Small, or misshapen, eyes
- Skeletal issues
- Smaller-than-normal head, called microcephaly
- Patches of light-colored skin
Heart problems and abnormal kidneys are also common in children with FA. Adults with FA can get head, neck, gastrointestinal, and gynecological cancers at a much earlier age than most people.
Regardless of age, nearly everyone affected with FA will experience bone marrow failure, although its progression can vary from person to person. The disease also leaves most adult males and half of females infertile. People with FA are more likely to get hydrocephalus, or fluid on the brain.
How Is It Treated?
Most treatments for FA focus on symptoms, and will depend on several factors, including the severity of the disease, medical history, age, and overall health. A team of pediatricians, surgeons, cardiologists, oncologists, urologists, kidney specialists, and others might be involved in your treatment.
Bone marrow stem cell transplant. One way to treat FA is to replace damaged bone marrow cells with healthy cells through a bone marrow transplant. During this procedure, defective bone marrow is destroyed by radiation and chemotherapy. It is then replaced with bone marrow from a healthy donor.
Androgen therapy. Your doctor might also decide to use male hormones called androgens. These hormones could help your body produce more blood cells. The treatment is not long-lasting, however. Over time your body might lose its ability to make more blood cells. So, you might have to have other forms of treatment. Hormone therapy can also cause liver disease and other issues.
Growth factors. Your doctors can also treat FA with synthetic growth factors, which are man-made substances that stimulate blood cell growth.
Surgery. If your child has FA, surgery can help correct some of their physical abnormalities, digestive problems, and other defects.
Gene therapy. This involves doctors replacing the mutated FA gene with a normal copy. It’s still experimental, but researchers hope the new genes will be able to make proteins that can repair bone marrow.
Can You Prevent FA?
Because FA is an inherited disease, there is no way to totally prevent it. However, genetic screening tests can determine whether you and your partner are carriers of a damaged FA gene. That way you can be fully informed before you decide to have children.