Fanconi Anemia: Symptoms & Long-Term Management of Fanconi Anemia

What is fanconi anemia?

Summary

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.

Genetic Testing and Counseling

For individuals diagnosed with or suspected to have Fanconi anemia, genetic testing and counseling are crucial components of care. Genetic testing can confirm a diagnosis of FA by identifying mutations in FA-associated genes. This testing is typically done through blood samples or skin biopsies. Knowing the specific gene mutations can help predict the clinical course and guide treatment decisions.

Genetic counseling is equally important for patients and families affected by FA. A genetic counselor can explain the inheritance patterns of FA, which is usually autosomal recessive but can rarely be X-linked or autosomal dominant. They can discuss the risk of FA in future pregnancies and options like prenatal testing or preimplantation genetic diagnosis. Counseling also helps families understand the implications of test results and make informed decisions about medical care and family planning.

Both genetic testing and counseling are recommended at the time of diagnosis and at various points throughout a patient's life. These services can provide valuable information and support as families navigate the complexities of this rare inherited disorder.

Recommended care

You should visit your primary care physician in the next 2 weeks to check your blood counts.

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.

Main symptoms

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.

Developmental symptoms

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

Complications

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.

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.

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.