Fanconi anemia is a rare disease passed down through families that mainly affects the bone marrow. It results in decreased production of all types of blood cells.
What is fanconi anemia?
Fanconi anemia is a genetic disorder of the bone marrow that affects many different organs of the body. The impaired bone marrow fails to produce enough red blood cells, white blood cells, and platelets. With these shortages, your tissues cannot get enough oxygen, your body cannot properly fight off infection, and your blood cannot clot normally.
You may experience fatigue, cold intolerance, increased infections, internal bleeding, birth defects, and developmental problems from the beginning of life.
Treatment plans are often successful and focus on relieving anemia-specific symptoms. Since Fanconi anemia is a chronic inherited condition, there is unfortunately no way to cure it entirely.
You should visit your primary care physician in the next 2 weeks to check your blood counts.
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Fanconi anemia symptoms
Symptoms of Fanconi anemia can be categorized by those that are common, as well as those that may occur due to birth defects or that are associated with developmental issues.
The symptoms of Fanconi anemia may differ in severity and overall occurrence; however, you are likely to experience:
- Fatigue: Feeling tired all the time occurs in people with Fanconi anemia due to a lack of red blood cells carrying needed oxygen to different tissues and organs.
- Cold intolerance: For reasons similar to those for fatigue, people with Fanconi anemia may experience coldness in the hands and feet, pale skin and chest pain due to both red blood cell problems and circulation problems.
- Increased infections: Increased infections and symptoms related to it such as fever, cough, nausea, and vomiting occur in Fanconi anemia due to lack of white blood cells that cannot properly fight off infections.
- Internal bleeding or petechiae: Loss of platelets in Fanconi anemia can result in disorders of blood clotting and lead to internal bleeding. Some people also experience tiny red or purple dots on the skin called petechiae. Petechiae signal underlying bleeding in small blood vessels just under the skin.
Birth defect symptoms
Beyond the main symptoms of Fanconi anemia, the following birth defects may also be present:
- Bone or skeletal defects: This includes missing or oddly shaped fingers or limbs that are not fully formed.
- Eye and ear defects: This may include problems with hearing.
- Skin discoloration: Patches of lighter or coffee-colored skin may be present.
- Kidney and heart problems: This may include missing or misshapen kidneys and defects in the heart that separates the left and right chambers.
Children with Fanconi anemia may have significant difficulties reaching developmental milestones and learning in school. They may also have:
- Smaller head sizes
- Low birth weight
- Shorter heights
Cancer is a major complication of Fanconi anemia, especially cancers of the blood and blood-forming cells of the bone marrow, specifically:
- In the leukemia family: Such as acute myeloid leukemia (AML)
- In the gastrointestinal system, neck, skin and genital tract
Fanconi anemia causes
Fanconi anemia is a disorder that is inherited, or passed down from parents to children, through genes. There are multiple faulty genes associated with Fanconi anemia.
Inheritance pattern if both parents are a carrier
When both parents pass a faulty gene to their child, the child will develop Fanconi anemia because they have two faulty genes. The parents do not have to have Fanconi anemia; they can simply be carriers, meaning they have only one faulty gene instead of two.
As an example, if both of your parents have a faulty FA gene, your outcomes include:
- Having FA: A 25 percent (1 in 4) chance
- Not having FA: A 25 percent (1 in 4) chance
- Being a carrier: A 50 percent (2 in 4) chance of being an FA carrier and passing the gene to any children you have
Inheritance pattern if one parent is a carrier
If only one of your parents has a faulty FA gene, you won't have the disorder. However, you have a 50 percent chance of being an FA carrier and passing the gene to any children you have. See this pictorial representation of the inheritance of Fanconi anemia here. Since this is an inherited disorder, people are affected right at birth and live with the disease for the entirety of their lives.
Who is most likely to be affected
Fanconi anemia occurs in all racial and ethnic groups and affects men and women at the same rates. However, two ethnic groups are more likely than others to have Fanconi anemia or be carriers of a faulty gene.
- Ashkenazi Jews: Descended from the Jewish population of Eastern Europe.
- Afrikaners: White natives of South Africa who speak a language called Afrikaans and descended from early Dutch, French, and German settlers.
As discussed above, since Fanconi anemia is an inherited disease, children born into families with a history of Fanconi anemia are most at risk for developing the disorder or being carriers.
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Treatment options and prevention for fanconi anemia
Since Fanconi anemia is a chronic, long-term disease, many of the treatments are long-term and require medical management. There are a few main types of treatment for Fanconi anemia. These strategies can either cure the anemia or treat the symptoms without curing the underlying cause.
Bone marrow stem cell transplant
This is the standard, first-line treatment for Fanconi anemia and is meant to be curative.
- How it works: Bone marrow stem transplant results in removing the failing bone marrow and replacing it with healthy bone marrow from a donor.
- Efficacy: In order for the treatment to be most successful, it is best for the donor to be someone who has stem cells in the bone marrow that match yours as closely as possible.
- Side effects: Once the new stem cells are in the body, they begin making all three types of blood cells that were previously lacking. However, adverse effects may occur if the body rejects these cells.
Androgens are synthetic hormones and were once the first-line therapy before options such as bone marrow transplant became available.
- How it works: Androgen therapy treats the symptoms of Fanconi anemia by helping the body make more red blood cells and platelets.
- Efficacy: Androgen therapy can wear off over time and require frequent follow-up and re-administration.
- Side effects: Androgen therapy can have serious side effects on the liver and can sometimes predispose people to develop leukemia.
Surgery can be used to help repair some of the birth defects associated with Fanconi anemia. For example, your physician may suggest surgery to correct any finger or limb abnormalities. Children with Fanconi anemia and heart defects often get surgery to correct any malformations.
New treatment strategies
Newer treatment strategies include growth factor therapy and gene therapy.
- Growth factor therapy: This involves helping the body make more red and white blood cells. Research suggest that growth factor therapy may have a better side effect profile than androgen therapy.
- Gene therapy: This involves directly targeting and manipulating the faulty genes that can cause Fanconi anemia. Researchers are looking for ways to completely replace the faulty genes with healthy genes. The results are promising but more research needs to be done.
Medical management is the best treatment for Fanconi anemia, but there are things you and your family can do at home or consider to help better cope with the disease.
- Counseling: Family counseling for Fanconi anemia can help give you and other people in your family important support and advice.
- Genetic testing: It may be helpful and important to test all of your children for FA if one of your children is born with the disorder. If you're diagnosed with FA as an adult, your physician may suggest testing your brothers and sisters for the disorder.
When to seek further consultation for fanconi anemia
If you experience symptoms of FA, you should see your physician. If you have a family history of FA and are concerned about being a carrier or your family members carrying the disease, you may also request a consult or testing.
Questions your doctor may ask to determine fanconi anemia
- Have you been feeling more tired than usual, lethargic or fatigued despite sleeping a normal amount?
- Is your skin change constant or come-and-go?
- How long have your skin changes been going on?
- Is your rash raised or rough when touching it?
- What color is the skin change?
Self-diagnose with our free Buoy Assistant if you answer yes on any of these questions.
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