Fanconi Anemia

Fanconi anemia can affect many different parts of your body, including your physical appearance. About 75% of people with FA are born with conditions like scoliosis, unusually shaped thumbs or no thumbs, smaller or larger heads, light-brown skin patches (sometimes called café-au-lait spots), and are shorter and smaller overall. FA can also cause unusually shaped internal organs that don’t work well. This includes the heart, liver, digestive system and kidneys.

Symptoms vary based on the organ affected. For example, if your bone marrow starts to make fewer red blood cells, then you would develop anemia. You’d feel very tired, be dizzy, look pale, have frequent headaches or struggle to catch your breath.

If your white blood cells start to decrease, then you’ll get a lot of infections. If your platelets get low, then you might bruise easier, have frequent nose bleeds or bleed more than normal if you get a cut.

Symptoms usually start during childhood, between ages 3 and 14. So, often you’re diagnosed with FA by the time you reach adolescence. But, sometimes, you may not have noticeable symptoms and get diagnosed later in life.

Your provider may diagnose FA when they’re ruling out or treating other conditions, like unusual physical features, cancer or bone marrow failures. This means they might first diagnose Ehlers-Danlos syndrome or Marfan syndrome and then diagnose Fanconi anemia.

What to expect at your first visit

Symptoms are the first key to helping our team confirm that you have FA. So, when you come to your first appointment or bring your child in to see us, your provider will want to know what you’re experiencing. They may ask:

• Do you or your child have symptoms?
• What are the symptoms?
• When did the symptoms start?
• How are they affecting your or your child’s life?

They’ll also do a physical exam to look for any noticeable signs of Fanconi anemia. And they’ll order tests to see if FA is affecting your blood, bones or other organs.

Testing for Fanconi anemia

You or your child may have blood tests, including:

• Complete blood count (CBC) to check how healthy your blood cells are.
• Basic metabolic panel (BMP) to see how well your body changes food into energy and make sure your liver and kidneys are working well.
• Reticulocyte count to see if your bone marrow is making enough healthy red blood cells.

Imaging tests like ultrasound, CT scan (computed tomography scan) and MRI (magnetic resonance imaging) can help us look closely at your bone structure and internal organs. Your provider may also order an echocardiogram (echo) to check your heart structure. Hearing tests or eye exams can show how FA has affected hearing or vision. And your provider may check your bone marrow for abnormal cells using aspiration or biopsy.

Genetic testing and counseling

Since FA is inherited, our team also checks for gene changes (mutations) linked to FA. Our experienced genetic counselors will go over your family history. And they’ll do genetic testing (simple blood tests) for you and your family. A chromosome breakage test is a kind of genetic test that uses chemicals to see how the chromosomes in your blood and skin cells react.

Meet Our Fanconi Anemia Team

Cleveland Clinic’s team-based care means you’ll have experts from different specialties — both pediatric during childhood and adult providers later on — working together to plan your treatment and keep a close eye on your progress. Your care team could include:

• Hematologists.
• Oncologists.
• Pathologists.
• Cardiologists.
• Nephrologists.
• Otolaryngologists.
• Ophthalmologists.
• Orthopaedists.
• Radiologists.
• Gastroenterologists.
• Geneticists.
• Genetic counselors.

Our compassionate providers will go over each treatment option to make sure you get the best results. Treatment depends on how FA affects your or your child’s body.

Treatment for blood conditions

FA can lead to life-threatening blood conditions as it progresses, like aplastic anemia, myelodysplastic syndrome or acute myeloid leukemia (blood cancer).

Our specialists focus on treating these and other related conditions with therapies like:

• Bone marrow transplant (BMT) to treat FA-related blood conditions like preleukemia, leukemia and bone marrow failure (if you need a blood transfusion or your white blood cell count is very low). Many people with FA will need BMT.
• Blood transfusions with donor blood to replace missing or abnormal red blood cells or platelets.
• Androgen therapy (oxymetholone) to encourage red blood cell production.
• Synthetic growth factors, which are substances that help bone marrow make more red and white blood cells.

Surgery for Fanconi anemia

Surgery isn’t the main treatment for FA. But the condition may cause other problems that need surgery. We may use it to correct physical disorders or repair damaged organs.

Living With Fanconi Anemia

Fanconi anemia requires lifelong care and management. This means you’ll need to keep a close eye on your health or your child’s health. It’s important to look for changes, like skin growths and sores (lesions), unexplained bruising or bleeding and constant fatigue. New symptoms can pop up at any time.

That’s also why you or your child will have regular visits and testing with your care team. This lets us quickly start treatment if you or they show new symptoms or signs of complications.

Taking the Next Step

Living with a chronic condition like Fanconi anemia can be a lot to take in and understand. Especially when you’re always on alert for signs of serious, related conditions. Working with experienced and caring healthcare providers can make things easier. We’re here to help you or your child navigate life with FA so you can know what to expect.