Fanconi Anemia | Diagnosis & Treatment

How is Fanconi anemia diagnosed?

In addition to a complete history and physical examination, other diagnostic tests are used to aid in the diagnosis of Fanconi anemia (FA). Initially, blood work is performed to evaluate the degree of anemia and examine other body systems. A chromosome breakage test called the DEB test is the standard, definitive test for FA at this time. However, researchers at Dana-Farber/Boston Children's Cancer and Blood Disorders Center are developing new, simpler and more rapid tests that may soon replace the DEB test. In addition, blood and bone marrow samples may be examined in order to identify the specific gene mutation present in the individual.

How is FA treated?

Specific treatment for FA and its complications will be determined by your child’s physician based on:

  • your child’s age, overall health, and medical history
  • extent of the disease
  • your child’s tolerance for specific medications, procedures, or therapies
  • expectations for the course of the disease
  • your opinion or preference

Treatment options for FA may include, but are not limited to, the following:

  • Androgen therapy: Androgens are hormones that can improve the blood counts in approximately 50% of individuals with FA. They are taken daily, by mouth in liquid or pill form. Side effects of androgens include, but are not limited to: fluid retention and high blood pressure, nausea, vomiting, acne, oily skin, enlarged penis/clitoris, hoarseness/voice deepening, hair growth or loss, behavioral changes, hot flashes, breast enlargement or tenderness, loss of menstruation, and liver toxicity.
  • Growth Factors: Growth Factors such as G-CSF or GM-CSF stimulate the production of white blood cells. In some instances they may also improve red blood cell or platelet counts as well. They are given by injection.
  • Stem cell transplant: At present, this is only cure for the blood defects in FA. Stem cell transplantation involves replacing of diseased blood-forming stem cells with another person’s healthy stem cells. Unfortunately it may not be an option for everyone. The success of a transplant depends on many factors, such as how close the match is between child and donor (matched siblings are best; if your child has a sibling, there is a 1 in 4 chance they will be a match) and the patient's age. The degree to which your child's bone marrow has failed also factors into the discussion whether to pursue a transplant.

In addition, stem cell transplants have many associated risks and therefore are not appropriate for many children with FA. The risks are compounded because FA makes individuals extremely sensitive to chemotherapy and radiation therapy, which are essential “pre” stem cell transplant therapies. The decision to proceed with stem cell transplant should be discussed with your child’s hematologist and a stem cell transplant teamAdditional treatment alternatives are currently being studied.

What is the long-term outlook for children with FA?

Certain forms of cancer tend to develop in children with FA at a young age and may come back after treatment. These include:

  • leukemia
  • head and neck cancer (mouth, tongue and throat)
  • gynecologic cancers (particularly labial, ano-genital and cervical cancer)
  • gastrointestinal cancers (especially liver cancer)
  • brain tumors

The average lifespan for people with FA is 20 to 30 years. Children with a large number of birth defects are at higher risk of early-onset severe aplastic anemia, while those with fewer abnormalities are more likely to develop leukemia or solid tumors as young adults. The most common cause of death is bone marrow failure, leukemia or solid tumors.