How is Fanconi Anemia Treated?

Fanconi anemia is a rare genetic disorder that often causes progressive bone marrow failure and increases the risk of cancer.

FA affects multiple systems in the body, so at the time of diagnosis, it is important to refer the patient to a hematologist (a doctor who specializes in blood disorders) with expertise in FA for medical monitoring and management.

There is no cure for FA, and its management faces many challenges. Current treatments for FA include drugs that help your body make more blood cells, and a blood or bone marrow transplant.

New and promising gene therapy trials are underway. Many families also benefit from supportive care, such as lifelong monitoring, which may include regular blood and bone marrow tests, blood transfusions, and 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.

Treatment options for bone marrow failure

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

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

stem cell transplant

The bone marrow produces special cells called hematopoietic stem cells (HSC). These cells eventually become platelets (involved in blood clotting), red blood cells (carrying oxygen and nutrients to the body’s cells), and white blood cells (an important part of the immune system).

Hematopoietic stem cell transplantation (HSCT) is considered the only possible curative treatment for BMF in FA patients. This treatment involves replacing HSCs with donor cells (stem cells obtained from the donor’s blood, bone marrow, or umbilical cord blood, ideally matched siblings). The transplanted cells are injected intravenously (by IV) into the blood of FA patients.

Recent advances in treatment technology have improved the outcome of this treatment. A review of long-term outcomes of 163 FA patients who underwent HSCT found an overall survival rate of 81% after five years.

This treatment can present challenges in finding a suitable donor match. Even if treatment is successful, you or your child must continue to have regular checkups for signs of cancer and other complications of FA.

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Find a Stem Cell Donor

Biological siblings are most likely matched, but parents and cousins ​​may also be tested. To receive HSCT from a donor, the potential donor’s stem cells first need to be tested for matching.

Your potential donor will need to provide a blood sample (most common) or a bone marrow sample. Donors should be able to generate their own stem cells to compensate for the ones they donated to you.

If no relatives match, you may need to search the bone marrow donor registry.

Different options for bone marrow or stem cell transplantation

Androgen therapy

FA patients often do not have access to matched sibling stem cell donations.In these cases, synthetic androgens (male sex hormone) is the most widely used non-transplant treatment for low blood counts (cytopenia) in FA patients.

How androgens increase blood cell counts is not known. But studies have shown that these drugs have beneficial effects in as many as 80 percent of cases. This effect is most pronounced in red blood cell and platelet counts, but neutrophil (a type of white blood cell) count may also improve.

The most prescribed androgens are Danocrine (danazol) or Anadrol and Anapolon (Oxymetholone). While these drugs can raise blood counts, aggressive treatment can cause side effects, such as:

  • Accelerated linear growth (height increase)
  • weight gain
  • acne
  • Testicular atrophy/impaired development in men
  • masculinization (development of male characteristics in women)
  • hepatotoxicity

While these side effects can be concerning, untreated bone marrow failure can be life-threatening. Side effects and potential benefits must be carefully weighed by you and your child with your healthcare team.

supportive therapy

People with Fanconi anemia often develop aplastic anemia, which is a decrease in all blood cell counts due to bone marrow failure. This, in turn, makes patients more susceptible to infections and puts them at higher risk for cancer.

While HSCT and androgen therapy are the preferred first-line treatments, 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 much blood transfusion can lead to iron overload. Concentrated red blood cells contain about 0.7 milligrams of iron per milliliter, but the body has no mechanism to get rid of excess iron, so 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 in the blood to nontoxic levels.
  • Bone marrow stimulators: Synthetic growth factors are sometimes used to stimulate blood cell production in the bone marrow. The drugs Epogen (erythropoietin or EPO) are used to stimulate the growth of red blood cells, and filgrastim and Neupogen (granulocyte colony stimulating factor or GCS-F) are used to stimulate the growth of white blood cells.
  • Antibiotics: Antibiotics help prevent and treat infections.

Surgery and expert-driven procedures

Surgery may be performed on an individual basis to address physical abnormalities present at birth (such as deformities of the thumb or forearm, heart defects, or abnormalities of the gastrointestinal tract). Surgery may also be necessary to treat cancer growth.

On behalf of your child, it is important to work with your child’s medical team to decide on surgical interventions to improve their quality of life or prolong their life.

Chemotherapy and Radiation

People with FA have an increased risk of developing hematopoietic cell cancer of the bone marrow, called acute myeloid leukemia (anti-money laundering), myelodysplastic syndrome (MDS) and solid tumors, most commonly found in the head, neck, skin, gastrointestinal system, or reproductive tract.

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

These cancers are often treated with chemotherapy (drugs given intravenously or pills that kill 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 radiotherapy. For this reason, an accurate diagnosis of FA-related cancers must be made before initiating treatment. An FA specialist should be consulted as lower-intensity chemotherapy and radiation regimens may be required.

Other symptom management strategies

Supportive care is the treatment term used to help you manage the symptoms of Fanconi anemia (FA). This approach does not treat the cause of FA, nor is it a cure.

FA presents with many symptoms that need to be managed, so you may use one or more of the following supportive measures to reduce your risk of infection and increase your energy levels at some point in your life.

Some common support measures include:

  • taking medication to reduce nausea and vomiting
  • Wash your hands carefully to reduce germ risk and ask others around you to do the same
  • stay away from foods that may carry bacteria, such as undercooked fruits and vegetables
  • Avoid people who may have latent infection
  • Take antibiotics at the earliest signs of infection
  • Get growth factors to increase white blood cell counts and reduce infection risk
  • Compensate for low platelet counts with medication or blood transfusions
  • receive red blood cell transfusions to combat fatigue or shortness of breath

Home Remedies and Lifestyle

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

  • get enough sleep
  • manage stress
  • Exercise
  • maintain a healthy diet
  • drink enough fluids
  • eat enough protein
  • Never smoke and limit alcohol

generalize

Fanconi anemia is a rare genetic disorder that usually causes bone marrow failure at a young age. Most patients with FA develop symptoms before age 10. The treatment of choice 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 of the cancer is still necessary.

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

VigorTip words

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

FA is a multisystem disease that affects nearly every part of the body. Therefore, you may need the involvement of multiple types of providers. While this adds to your care network and support system, it also poses the risk that the diagnosis and management plan will not be communicated effectively. It can also cause medications prescribed by one provider to interact with medications prescribed by other providers.

Therefore, all specialists must communicate with the attending physician (usually the hematologist/oncologist) to coordinate treatment. Don’t hesitate to ask questions, point out inconsistencies, and advocate on behalf of yourself or your child. Your medical team will help you live your healthiest life with FA. Using your voice will help them succeed.