How Fanconi Anemia Is Treated

Fanconi anemia is a rare inherited disorder that often leads to progressive bone marrow failure and increases the risk of cancer.

FA affects multiple systems of the body, so at the time of diagnosis, it is important that patients are referred to a hematologist (a doctor specializing in blood disorders) with expertise in FA for medical monitoring and management. 

There is no cure for FA, and its management poses many challenges. Current treatments of FA include medicines to help your body make more blood cells, as well as blood or bone marrow transplants.

New and promising gene therapy trials are ongoing. Many families also benefit from supportive care such as lifelong monitoring, which may include regular blood and bone marrow tests, blood transfusions, and making healthy lifestyle changes to manage complications.

This article will discuss current FA treatment options and supportive therapies that may help you or your child on their journey.

Doctor doing bone marrow transfer

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Treatment Options for Bone Marrow Failure

Fanconi anemia (FA) often causes the progressive failure of bone marrow (the spongy tissue in the middle of bones).

Bone marrow failure (BMF) is the most common medical complication observed in people with FA. It is also one of the earliest presenting signs of FA in children and adolescents. Therefore, much attention is paid to ways in which BMF can be improved. 

Stem Cell Transplantation

Bone marrow produces specialized cells called hematopoietic stem cells (HSC). These cells eventually become platelets (involved in blood clotting), red blood cells (which carry oxygen and nutrients to cells of the body), and white blood cells (important parts of the immune system).

Hematopoietic stem-cell transplantation (HSCT) is considered the only potentially curative treatment for BMF in patients with FA. This treatment involves replacing HSC with donor cells (stem cells obtained from the blood, marrow, or umbilical cord blood of a donor, ideally a sibling match). Transplant cells are infused into the FA patient's blood intravenously (through an IV).

Recent advances in treatment techniques have improved the outcomes of this treatment. One review of the long-term outcomes of 163 FA patients who received an HSCT found that the overall survival rate after five years was 81%.

This treatment can pose challenges in terms of finding an appropriate donor match. And even if the treatment is successful, you or your child must still continue with your regular examinations to watch for signs of cancer and other complications of FA.

Finding a Stem Cell Donor

Biological siblings are most likely to be a match, but parents and cousins may also be tested. To receive an HSCT from a donor, the potential donor's stem cells will first need to tested for a match.

Your potential donor(s) will need to provide a blood sample (most common) or a bone marrow sample. The donor should be able to produce their own stem cells to compensate for those they have donated to you.

If no relatives are a match, it may be necessary to search bone marrow donor registries.


Androgen Therapy

Matched sibling stem cell donation is often not available to FA patients. In these cases, synthetic androgens (male sex hormones) are the most widely used nontransplant treatment for low blood cell counts (cytopenias) in patients with FA.

How androgens improve blood cell counts is unclear. But research shows these meds have beneficial effects in up to 80% of cases. The effects are most pronounced in red blood cell and platelet counts, but neutrophil (a white blood cell) counts may also improve.

The most prescribed androgens are Danocrine (danazol) or Anadrol and Anapolon (oxymetholone). While these meds can improve blood cell counts, aggressive treatment can lead to side effects such as:

  • Accelerated linear growth (gains in height)
  • Weight gain
  • Acne
  • Shrinkage/impaired development of the testes in males
  • Virilization (development of male characteristics in females)
  • Liver toxicity

While these side effects can be alarming, untreated bone marrow failure can be life-threatening. You and your child must carefully weigh the side effects vs. the potential benefits with your healthcare team.  

Supportive Therapies

Fanconi anemia patients often develop aplastic anemia, which is a decrease in all blood cell counts, due to bone marrow failure. This, in turn, can make the patient more susceptible to infections and puts them at a higher risk of developing cancer.

While HSCT and androgen therapy are the preferred first-line treatment measures, other supportive measures for aplastic anemia may include the use of:

  • Blood transfusions: Blood transfusions can temporarily increase blood and platelet counts. 
  • Iron chelation therapy: This treats iron overload. Too many blood transfusions can cause iron overload. Each milliliter of packed red cells contains approximately 0.7 milligrams of iron, but the body does not have a mechanism to rid itself of excess iron, therefore frequent blood transfusions can lead to a buildup of iron in the blood, sometimes reaching toxic levels known as iron overload. Iron chelation therapy reduces iron to nontoxic levels in the blood.
  • Bone marrow stimulators: Synthetic growth factors are sometimes used to stimulate blood cell production in the bone marrow. The medication Epogen (erythropoietin or EPO) is used to stimulate red blood cell growth, and Filgrastim and Neupogen (granulocyte colony-stimulating factor or GCS-F) are used to stimulate white blood cell growth. 
  • Antibiotics: Antibiotics help to prevent and treat infections.

Surgery and Specialist-Driven Procedures

Surgery may be done on an individual basis to address physical abnormalities present at birth (such as malformations of the thumbs or forearms, heart defects, or gastrointestinal abnormalities). Surgery may also be necessary to treat cancerous growth that develops.

On behalf of your child, it's important to work with your child's healthcare team to decide on surgical interventions that may improve their quality of life or extend their lifespan.

Chemotherapy and Radiation

Individuals with FA have an increased risk of developing cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and solid tumors, most commonly in the head, neck, skin, gastrointestinal system, or genital tract.

In rarer cases, people with FA may also develop squamous cell cancers in the mouth, esophagus, and vulva, gastrointestinal (GI) tract, and anus.

These cancers are frequently treated with chemotherapy (medication given via IV or by pill that kills cancer cells) and/or radiation (high energy beams that kill cancer cells).

However, FA patients are extremely sensitive to the DNA-damaging effects of chemotherapy and radiation. For this reason, an accurate diagnosis of FA-related cancer must be made prior to initiating treatments. Specialists in FA should be consulted, as less intensive chemotherapy and radiation regimens may be needed.

Other Symptom-Management Strategies

Supportive care is a term used for treatments that help you manage the symptoms of Fanconi anemia (FA). This approach does not treat the cause of FA and is not a cure.

FA presents with a host of symptoms that will need to be managed, so chances are you will use one or more of the following supportive measures to decrease your risk of developing an infection and improve your energy level at some point in life.

Some common supportive measures include:

  • Taking medications to reduce nausea and vomiting
  • Careful handwashing to lower germ risk and asking others around you to do the same
  • Staying away from foods that may carry germs, such as uncooked fruits and vegetables
  • Avoiding large crowds, where infections may lurk
  • Taking antibiotics at the earliest signs of infection
  • Getting growth factors to increase white blood cell counts and lower infection risk
  • Compensating for low platelet counts with drugs or transfusions
  • Receiving red blood cell transfusions to combat fatigue or shortness of breath

Home Remedies and Lifestyle 

Many people with Fanconi anemia will examine their lifestyle and make some modifications. Here are some factors that may help to enhance your overall health:

  • Getting adequate sleep
  • Managing stress
  • Exercising
  • Maintaining a healthy diet
  • Drinking enough fluids
  • Eating enough protein
  • Never smoking and limiting alcohol use 

Summary

Fanconi anemia is rare genetic condition that causes bone marrow failure, often at a young age. Most FA patients develop symptoms before age 10. The preferred treatment is hematopoietic stem-cell transplantation (HSCT), ideally using donor stem cells from a biological sibling. This has the potential to be curative, but lifelong monitoring for cancer will still be necessary.

Androgen therapy is another common treatment to increase blood cell counts. Other treatments such as blood transfusions, iron chelation therapy, antibiotics and surgery may be used to manage symptoms or complications of FA.

A Word From Verywell

More effective treatments and a cure for FA depend on research. Stem cell research and newer gene therapies are providing some hope, but more clinical trials are needed to find all the potential treatment options that may be available to those with FA. 

FA is a multisystem disorder that affects nearly every part of the body. As a result, it is likely that you will need the involvement of multiple types of providers. While this increases your care network and support system, it also introduces the risk that diagnoses and management plans are not effectively communicated. It can also cause medications prescribed by one provider to interact with those prescribed by others.

Therefore, it is essential that all subspecialists communicate with the primary physician, usually the hematologist/oncologist, to coordinate care. Don't hesitate to ask questions, point out contradictions, and advocate on behalf of yourself or your child. Your healthcare team is there to help you live the healthiest life with FA possible. Using your voice will help them succeed.

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7 Sources
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