Fanconi Anemia

What is Fanconi anemia?

Fanconi anemia (FA) is a rare, inherited blood disorder that affects the bone marrow. It is a type of bone marrow failure where the bone marrow does not make enough healthy blood cells. 

Fanconi anemia can affect other body tissues and organs, including the bones, skin, kidneys, and heart. It can also increase the risk of certain types of cancer.

Bone marrow is the soft, spongy tissue at the center of your bones. Stem cells in the bone marrow make new blood cells. These include: 

• Red blood cells that carry oxygen to the body
• White blood cells that help fight infections
• Platelets that help the blood to clot and stop bleeding

In Fanconi anemia, the bone marrow does not make enough blood cells or stops making them. This causes pancytopenia or low levels of 3 types of blood cells:

• Red blood cells (anemia)
• White blood cells (neutropenia)
• Platelets (thrombocytopenia) 

People with Fanconi anemia may also develop myelodysplastic syndrome (MDS). In MDS, blood cells are damaged and do not develop or work normally.

Fanconi anemia usually appears in children of pre-school or school age. It is a severe and life-threatening blood disorder. Treatments include blood transfusions, medicines, and stem cell (bone marrow) transplant. 

Fanconi anemia is not the same as Fanconi syndrome, a condition that affects the kidneys.

Symptoms of Fanconi anemia

Signs and symptoms of Fanconi anemia are caused by low numbers of red blood cells, white blood cells, and platelets. Your child's symptoms depend on which type of blood cell is affected and the severity of their condition.

Fanconi anemia can also cause changes in growth, physical appearance, and internal organs. 

About 6 in 10 (60%) children with Fanconi anemia are born with at least one of the following:

• Low birth weight
• Smaller-than-average body size
• Short height 
• Delayed growth
• Small head size
• Extra, misshapen, underdeveloped, or missing body parts
• Darker or lighter-colored skin patches  
• Eye or vision problems
• Ear problems and hearing loss
• Kidney problems
• Poor appetite 
• Gastrointestinal problems (stomach and intestines)
• Heart defects
• Learning problems

Fanconi anemia can increase your child’s risk of certain types of cancer including leukemia, or tumors of the head, neck, skin, digestive system, reproductive organs, or genitals.

Causes of Fanconi anemia

Fanconi anemia is an inherited type of bone marrow failure. This means it is passed down through families. 

Fanconi anemia is caused by a change (mutation) in certain genes. These genes help repair DNA in cells. When the genes do not work, the body cannot fix damaged DNA, leading to different health problems.

Most cases of Fanconi anemia are because of mistakes in the FA genes FANCA, FANCC, or FANCG.

Risk factors of Fanconi anemia

A child must inherit a faulty FA gene from each parent to develop Fanconi anemia. If both parents carry the changed gene, there is a 1 in 4 (25%) chance their child will have Fanconi anemia. 

Fanconi anemia is found in many ethnic groups but is more common among:

• People of Ashkenazi Jewish descent
• Roma population of Spain
• Afrikaner population of South Africa

Diagnosis of Fanconi anemia

Your child’s health care provider will do a physical exam and ask about your family’s health history. They will do several types of tests.  

These tests may include: 

• Chromosome breakage test (DEB or MMC test): This test checks to see if cells can repair DNA damage. A high level of chromosome breakage or positive test confirms a diagnosis of Fanconi anemia.
• Genetic tests: Genetic tests will be done to look for specific gene changes (mutations) linked to Fanconi anemia.
• Complete blood count: This test measures the number of red blood cells, white blood cells, and platelets. Low counts of all 3 types of blood cells can indicate Fanconi anemia.
• Bone marrow aspiration and biopsy: This test looks at the number and size of cells found in a bone marrow sample to see if the bone marrow is working properly. In patients with Fanconi anemia, the bone marrow has a very low cell content (hypocellular). 

Your child may also have imaging tests such as magnetic resonance imaging (MRI) or ultrasound to look for other health problems associated with Fanconi anemia.  

Genetic counseling and testing is recommended to help you understand your child’s diagnosis and how Fanconi anemia runs in families. 

Treatment of Fanconi anemia

The right treatment for your child depends on the severity of symptoms and your child’s medical needs. It is important that your child has regular medical care and monitoring, including blood counts, bone marrow tests, and screening for cancer and other problems.

Fanconi anemia treatment can include short-term and long-term treatment strategies to address complications and improve quality of life. 

Treatments for Fanconi anemia include:

Stem cell (bone marrow) transplant

A bone marrow transplant is the only long-term treatment for bone marrow failure caused by Fanconi anemia. Healthy bone marrow from a donor (allogeneic transplant) replaces damaged bone marrow. 

For a successful bone marrow transplant, an HLA-matched donor is needed. HLA (human leukocyte antigens) are proteins on cell surfaces. Doctors need to carefully match these markers between the donor and patient to prevent dangerous immune system reactions and transplant rejection. A transplant is not an easy process and can have complications including immune system reaction, rejection of donor cells, or infection. Even with a transplant, your child can be at risk for other health problems and complications of Fanconi anemia.

Blood transfusions

Your child may receive transfusions of red blood cells or platelets from a healthy donor. This can help treat symptoms but is not a cure.

Androgen therapy

Androgens (male hormones) can help the body make more red blood cells and platelets. Androgen therapy can temporarily improve blood cell production in some patients. It can help manage symptoms, but your child will need regular monitoring for side effects. 

Growth factor medicines

In some rare situations, growth factor medicines such as eltrombopag or filgrastim (G-CSF) can be used to boost stem cell production to help the body make more blood cells. 

Treatments to prevent or manage infections

Patients with Fanconi anemia can have very low white blood cell counts and are at high risk for life-threatening infections.

• Antibiotics, antivirals, and antifungals: To treat or prevent infection, your child may need medicines to kill bacteria (antibiotic), viruses (antiviral), or fungi (antifungal). 
• Vaccinations: Staying up to date with vaccines can help prevent infections, especially if your child has a weak immune system due to low blood counts.

Surgery

Some children may need surgery to treat complications of Fanconi anemia such as physical abnormalities, tumors, heart defects, kidney problems, or other organ problems.

Gene therapy

Scientists are studying new gene therapy treatments that work by repairing faulty genes in a patient’s stem cells. These therapies are new but may be offered through a clinical trial in the future.

Prognosis for Fanconi anemia

Each case of Fanconi anemia is different.  

The prognosis depends on:

• The specific features of your child’s condition
• Access to medical care and response to treatments
• Availability of a donor for bone marrow transplant 

With proper medical care and treatment, many children with Fanconi anemia can manage symptoms during childhood and adolescence. 

About 8 in 10 (80%) of people live into adulthood. But people with Fanconi anemia have a shortened life expectancy because of the ongoing risk of health problems and complications.

With advancements in diagnosis and treatment, the long-term outcomes for children with aplastic anemia patients are continuously improving.

Your health care provider is the best source of information about your child’s case.

Living with Fanconi anemia

If your child has Fanconi anemia, certain lifestyle changes may help them manage the condition and prevent problems. Educating yourself and working closely with your health care provider is important.

Here are some ways to help manage Fanconi anemia:

• Keep all medical appointments: Your child will need regular lab tests and monitoring including blood and bone marrow tests. Be sure to keep all appointments and seek medical care if your child’s condition changes.
• Take steps to prevent infection: Wash hands often, keep patient areas clean, and stay away from people who are sick. Get recommended vaccines and take medicines as prescribed.
• Get cancer screenings: Fanconi anemia increases your child’s risk of cancer. The earlier cancer is detected, the more likely it is to be treated and managed. Your child may need screening for tumors that can develop in the blood, brain, head and neck, kidney, or other parts of the body. 
• Alert others about your child’s condition: Be sure that others are aware of your child’s medical condition and any associated risks, such as bleeding or infection. Tell all health care providers about your child’s diagnosis and any medicines they take. This is especially important before any medical or dental procedures. Because of the increased risk of cancer and other health problems, special safety steps are needed with some medicines, diagnostic tests such as x-rays, and treatments with radiation.
• Do not give your child any medicine without talking to your doctor: Some medicines can increase the risk of bleeding or interact with other medicines your child takes. Talk to your care team before giving your child any medicine or supplement.
• Know what activities to avoid: If your child has fewer red blood cells, they may get tired more easily or get out of breath. Be sure your child does not overdo physical activity. When platelet counts are low, your child is at higher risk of bleeding. Avoid contact sports, rough play, and activities that could involve falls or injury to the head or stomach.
• Encourage healthy habits: Help your child develop a healthy lifestyle through physical activity, healthy eating, and good sleep habits. Be sure your child wears sunscreen, drinks enough fluids, and does not smoke or vape. 

Questions to ask your care team 

• What follow-up care and monitoring will my child need?
• What signs and symptoms of Fanconi anemia should I watch for?
• How does Fanconi anemia impact my child’s growth and development?
• Are there new treatments or clinical trials for Fanconi anemia we should consider?
• What are the risks and benefits of each treatment option?
• Are there support groups or resources for families dealing with Fanconi anemia?
• How will Fanconi anemia affect my child’s daily life, such as going to school and other activities?

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