Fanconi Anemia (FA)

What is Fanconi anemia (FA)?

Fanconi anemia (FA) is a rare inherited condition that affects your bone marrow and many other parts of your body. Your bone marrow is the spongy tissue in the center of your bones that creates stem cells that become red and white blood cells and platelets. If you have Fanconi anemia, your bone marrow doesn’t create healthy blood cells and platelets. People with FA have an increased risk of developing blood disorders and some kinds of cancer. FA also causes physical abnormalities that can affect people’s organs and appearances. People with FA that’s caused blood disorders are living longer and with fewer medical issues because they’re able to have bone marrow transplants.

How does Fanconi anemia affect my or my child’s body?

Fanconi anemia may affect your or your child’s body in many different ways:

• About 75% of children born with FA have physical abnormalities that may affect their appearance and some of their internal organs.
• About 90% of people with FA have bone marrow failure or lack of function. That means their bone marrow doesn’t make enough healthy blood cells. People with bone marrow failure can develop blood disorders such as aplastic anemia and myelodysplastic syndrome (MDS). MDS is a form of pre-leukemia.
• Between 10% and 30% of people with FA develop certain cancers, including leukemia. They may have cancer at earlier ages than people who don’t have Fanconi anemia.

Is Fanconi anemia a cancer?

FA isn’t cancer, per se. People who have FA are more likely to develop certain cancers, including acute myeloid leukemia, skin cancer, cancer of the head and neck and other parts of their bodies.

Who is affected by Fanconi anemia?

Fanconi anemia is very rare. It affects 1 in 160,000 people worldwide. Most of the time, FA is diagnosed during childhood or young adulthood.

What are common FA symptoms?

Fanconi anemia affects people in many different ways, starting with how our bodies develop during gestation. FA may cause different symptoms linked to many different conditions, including anemia, bone marrow failure syndrome (aplastic anemia), cancer and physical abnormalities. For example, someone with FA may be very short or have problems with their bone structure. Many people have FA but don’t have obvious signs or symptoms.

What are anemia symptoms?

Anemia is a common sign of FA. Symptoms include:

• Fatigue. People with anemia may feel too tired to carry on with their daily activities.
• Pale skin color.
• Difficulty catching their breath.
• Feeling as if their heart is racing.
• Headaches.

What are bone marrow failure syndrome symptoms?

Bone marrow failure syndrome (aplastic anemia) symptoms are similar to anemia symptoms. Other symptoms are:

• Bacterial or fungal infections: FA can cause low white blood cell count that increases the risk of infections.
• Excessive bleeding:FA affects platelets, which helps blood to clot and control bleeding. People may bleed from any part of their body including their gums, nose and gastrointestinal tract.

What are common symptoms of cancer associated with FA?

People with FA are more likely to develop some kind of cancer. Symptoms for some common cancer types include:

• Myelodysplastic syndrome and acute myeloid leukemia (AML): Symptoms include fatigue, easy bruising or bleeding, pale skin and anemia, shortness of breath and severe infection.
• Squamous cell carcinoma: Rough-feeling bumps or growths and sores that don’t heal.

What are common symptoms of physical abnormalities associated with FA?

FA can affect people’s appearance and how their bodies work. For example, some people with FA are smaller and shorter than normal. Sometimes, FA affects the size and shape of people's ears, feet, arms and hands. Other times, it affects the shape and function of their internal organs, such as their hearts, livers and kidneys. Some symptoms include:

• Having oddly shaped thumbs, two thumbs on one hand or no thumbs.
• Having a noticeably smaller head. This is a symptom of microcephaly. Babies born with microcephaly may have problems learning how to speak, stand and walk.
• Having an unusually large head. This is a symptom of hydrocephaly. Babies born with hydrocephaly may develop balance problems, vision problems and problems learning how to speak, stand and walk.
• Hearing loss or hearing difficulties. Sometimes, FA causes unusually small ears that affect peoples’ ability to hear.
• Skin that has large light-brown colored patches. Light-brown spots on skin, sometimes called café-au-lait spots.
• Unusual spinal curves. This is a symptom of scoliosis.

What causes Fanconi anemia?

FA is a genetic disorder caused by inherited mutations (discrete changes in genetic code) in a group of genes (genetic blueprints) for proteins. We have about 20 FA genes, but not all of them are affected when genes mutate. FA genes protect us from DNA damage that happens throughout life. When FA genes mutate, proteins that typically repair routine DNA damage don’t work properly and can’t fix damaged DNA. Here’s what happens:

• The DNA damage continues to spread, causing abnormal cell growth or cell death.
• Abnormal cell death can cause physical abnormalities linked to FA, as well as reduce the amount of blood cells our bodies need to function.
• Abnormal cell growth can lead to acute myeloid leukemia or other types of cancer.

Can someone who has abnormal FA genes pass them on to their children?

There’s a 25% chance that parents who carry abnormal FA genes will have a child who develops symptoms. And there’s a 25% chance that parents who carry abnormal FA genes won’t pass those abnormal genes on to their child.

How do healthcare providers diagnose Fanconi anemia?

Most of the time, healthcare providers diagnose Fanconi anemia while investigating or treating related conditions, including cancer, progressive bone marrow failure or physical abnormalities.

• Physical abnormalities: About 60% of people diagnosed with FA have physical abnormalities that affect the shape and size of parts of their bodies and organs.
• Progressive bone marrow failure: About half of children and adults who have FA have symptoms of bone marrow failure. Most children with FA develop bone marrow failure symptoms by age 10. Nearly all adults who have FA develop these symptoms by age 50.
• Cancer: People who have FA often develop acute myeloid leukemia (AML) or tumors in their head, neck, skin, gastrointestinal system or genital tract. About 30% of adults who have FA were receiving cancer treatment when diagnosed with FA.

As a result, healthcare providers typically diagnose the conditions that FA causes and then diagnose FA. Tests healthcare providers may use to diagnose blood disorders, blood cancers and solid tumors include:

• Complete blood count (CBC):Healthcare providers use this test to evaluate blood cell health and activity.
• Reticulocyte count: A reticulocyte count measures the number of immature red blood cells (reticulocytes) in your bone marrow. Healthcare providers measure reticulocytes to find out if your bone marrow is producing enough healthy red blood cells.
• Basic metabolic panel (BMP): This test provides information about your body’s chemical balance and metabolism (how your body transforms the food you eat into energy).
• Bone marrow biopsy: Healthcare providers examine bone marrow cells to diagnose certain diseases.
• Magnetic resonance imaging (MRI): This test produces detailed images of your organs.
• Ultrasound: This is an imaging test that uses sound waves to evaluate symptoms and health conditions.

Once your healthcare provider diagnoses the condition, they then determine if FA caused it.

Some genetic tests healthcare providers may use include:

• Chromosome breakage test,uses certain chemicals to see how chromosomes in blood and skin cells react.
• Genetic screening looks at specific genes to see if they have abnormalities that cause FA.

I’m pregnant and have a family history of FA. What tests show if the fetus has FA?

Healthcare providers may test for FA using two common prenatal tests:

• Amniocentesis: Healthcare providers examine chromosomes from a fluid sample of your amniotic sac (the fluid-filled sac around the fetus).
• Chorionic villus sampling: Healthcare providers take a tissue sample from your placenta to look for signs of genetic changes related to FA.

What are the treatment options for Fanconi anemia (FA)?

Typically, healthcare providers focus on treatments to manage blood disorders that FA causes, including:

• Bone marrow transplant: Healthcare providers may recommend a bone marrow transplant to treat leukemia, pre-leukemia or bone marrow failure.
• Androgen therapy: This treatment stimulates your red blood cell production. Healthcare providers may recommend this treatment if you have anemia.
• Synthetic growth factors: Growth factors stimulate your bone marrow to make more red and white blood cells. Healthcare providers may recommend synthetic versions to boost bone marrow blood cell production.
• Surgery: Healthcare providers may use surgery to correct physical abnormalities or repair damaged organs.

How can I reduce my risk of developing Fanconi anemia?

Fanconi anemia is an inherited disorder. That means you can’t reduce your risk of developing FA. That said, if you have a family history of FA, you may want genetic testing to find out if you’re carrying FA. Not everyone who carries FA develops medical conditions. Likewise, not all people who carry FA pass it on to their children. Genetic testing will help you to understand your situation.

How long do people live with Fanconi anemia?

FA affects people in different ways. If you have FA, your healthcare provider is your best resource for information about your prognosis.

How could Fanconi anemia affect my daily life?

If you have Fanconi anemia, you’ll need to monitor your overall health and let your healthcare provider know if you notice changes in your body that may be signs of FA symptoms. Here are some examples:

• FA happens when something turns some normal genes into abnormal genes. Healthcare providers call this intrinsic genetic instability. Genetic instability may increase the chance that cancer-causing substances like tobacco will cause more harm than usual.
• FA increases your risk of developing cancer, especially skin cancer. While everyone should protect their skin and monitor for signs of skin cancer, people who have FA need to be especially vigilant.
• FA causes blood disorders. If you have FA, you should protect yourself from injuries that may cause bleeding. You should also watch for changes in your body, like bruising and unusual bleeding or feeling unusually tired. These may be signs of blood disorders like anemia or leukemia.

I had a successful bone marrow transplant that treated my blood disorders. Do I still need to monitor my health?

Yes. Fanconi anemia can affect all parts of your body. While blood marrow transplants have cured FA blood disorders, people with FA are still more likely to develop cancer. Talk to your healthcare provider about steps you can take to protect your health.

A note from Cleveland Clinic

Fanconi anemia (FA) is a rare inherited disorder. People who have FA may have serious blood disorders. They’re also more likely to develop certain cancers. FA can cause significant physical differences that can affect peoples’ appearances and development as well. Healthcare providers can treat some of the medical conditions FA causes. Not everyone who has FA develops similar medical conditions. Many times, FA is like a chronic condition with different symptoms that may surface at any time. If you or your child has FA, ask your healthcare provider how FA might affect your life and what you can expect. Knowing what might happen next could help you feel better prepared to manage FA’s challenges.