Fanconi Anemia (FA)

Fanconi anemia (FA) is a rare inherited condition that keeps your bone marrow from making blood cells and platelets. Babies with FA may have physical differences that are present at birth. Later, they may have a bone marrow failure syndrome that leads to blood cancer or blood disorders. They may develop cancerous tumors earlier than people who don’t have Fanconi anemia.

Symptoms of Fanconi anemia

FA symptoms vary. For example, symptoms of physical differences may include:

• Thumbs that are shaped differently
• Hearing loss
• Light brown spots on the skin
• Side-to-side curves in the spin from scoliosis

Fanconi anemia can cause hydrocephaly or microcephaly. Hydrocephaly is when your baby has an unusually large head. Microcephaly is when your baby’s head is smaller than expected.

Bone marrow failure symptoms include:

• Difficulty breathing
• Excessive bleeding
• Fatigue
• Fever
• Headache
• Pale skin color

People in their 20s and 30s may have cancerous tumors. Symptoms vary, but may include:

• Lumps and bumps that don’t go away
• Pain in one area of their body
• Losing weight without trying

Fanconi anemia causes

This condition happens when you inherit abnormal genes known as FA genes. Normally, these genes fix damaged DNA.

If your DNA were a car, FA genes would be the on-call mechanics making repairs. When your genetic mechanics change and stop working, you may have abnormal blood cells that:

• Quickly grow and spread to cause blood disorders or cancer
• Die earlier than usual, causing physical differences

A child inherits FA if both biological parents pass on changed genes. They’ll carry the condition if only one parent has a changed gene. People who carry the genetic change don’t develop the health issues that FA causes.

Complications

Having Fanconi anemia increases your risk of serious health issues. For example, most people with this condition have bone marrow failure syndrome, which may lead to:

• Bacterial and viral infections
• Blood disorders, including aplastic anemia
• Blood cancer, including myelodysplastic syndrome and/or acute myeloid leukemia

Having Fanconi anemia increases the risk for:

• Cutaneous squamous cell carcinoma that affects your skin
• Head and neck squamous cell carcinoma
• Squamous cell carcinoma in genital tissues in your cervix, vagina or penis

Less common examples include brain cancer, esophageal cancer and liver cancer.

How doctors diagnose Fanconi anemia

A healthcare provider may do the following tests to diagnose this condition:

• Blood tests: This may include basic metabolic panel, complete blood count and reticulocyte count, and a special test called chromosome breakage analysis.
• Bone marrow biopsy: This test checks your bone marrow for blood disorders and blood cancer.
• Imaging tests: Examples are MRI scans and ultrasounds.
• Genetic tests: These tests check for abnormal FA genes or chromosome issues.

What tests detect FA in a fetus?

Healthcare providers may do:

• Amniocentesis: This test checks amniotic fluid for abnormal chromosomes.
• Chorionic villus sampling: Your provider checks the placenta for genetic changes.

How is Fanconi anemia treated?

Treatment depends on how FA affects you or your child. For example, treatment may be:

• Surgery to fix physical issues
• Allogeneic stem cell transplant for blood disorders and blood cancer
• Cancer treatments, like surgery, medication and radiation
• Synthetic growth factors, like G-CSF, help your bone marrow to make more blood cells.

FA may be a lifelong condition. Your child may need ongoing medical care. You may feel like you and your family are on your own to care for your child. But there’s help available, whether it’s special care from a child life specialist or a support group.

When should I seek care?

This condition can cause different diseases. Ask a healthcare provider about potential issues, symptoms and when to schedule check-ups. Talk to a provider if you have or your child has:

• Skin changes: Sores that don’t heal and rough scaly patches may be skin cancer symptoms.
• Unusual bleeding or bruising: FA increases your risk for blood disorders and blood cancer. Let a healthcare provider know if you or your child bruises or bleeds easily. Fatigue is another symptom.
• Unexpected weight loss: Cancerous tumors may cause weight loss, lumps and swelling.

How long do people live with Fanconi anemia?

People with Fanconi anemia don’t live as long as people who don’t have the condition. Having it increases your risk of several serious diseases. Early diagnosis and treatment help people live longer. But FA affects people in different ways. If your child has FA, their healthcare provider is the best source of information about what you can expect.