What is Fanconi anemia?

Fanconi anemia (FA) is a hereditary cancer predisposition disease that is basically able to affect any part of the body. Patients are at increased risk of bone marrow failure and of developing a leukemia and tumors. In addition, endocrine problems and malformations may occur.

How is Fanconi anemia deficiency diagnosed?

The diagnosis is confirmed by a specific blood test (chromosomal fragility). In a few cases, this test does not provide meaningful results, making it necessary to examine a skin biopsy. Using these methods, Fanconi anemia can be reliably diagnosed or ruled out. If the test is positive, a gene analysis often follows.

This examination should be conducted whenever someone has unexplained bone marrow failure. Furthermore, it makes sense to perform this examination on young adults with Fanconi-like cancers (tumors in the mouth or ENT region, vulvar tumors). Typical malformations may lead a doctor to initiate Fanconi anemia diagnostics as well. Since this is a rare disease, not all doctors are familiar with Fanconi anemia.

What is the risk of cancer?

While the risk of cancer is generally high, it increases dramatically in adulthood. Regular surveillance examinations therefore make sense.

What causes Fanconi anemia?

If both copies of the gene are affected by the pathogenic alteration, this is referred to as a homozygous mutation. When such an alteration occurs in an FA gene, this defect in proteins which are important in DNA repair processes will lead to increased chromosomal fragility. The chromosomes (carriers of the genetic material) are unstable, resulting in the typical disease symptoms and the increased risk of developing cancer.

Is there a treatment?

The options for treating the body’s reduced formation of blood cells are blood transfusions, the use of growth stimulators for white blood cells (G-CSF), and synthetic androgens. If there are malignant hematological changes, the only potentially curative treatment option is a bone marrow transplant.

To treat dwarfism, growth hormones are used for accelerating growth.

Surveillance Recommendations for the Early Detection of Cancer

Surveillance Recommendations

The goal is to detect developing complications early on in order to achieve the best possible treatment results. To this end, regular doctor’s visits as described below are recommended (recommendations from AACR 2016):

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Hematology

Regular monitoring of the blood count, annual bone marrow evaluation (bone marrow puncture and biopsy) based on a clinical assessment, early referral to a transplant center

Oncology

Six-monthly ENT checkups from early adolescence, annual gynecological checkups as of adolescence, HPV vaccination for boys and girls recommended as soon as they are teenagers

Immunology

Monitoring of the immunoglobulin values recommended by immunologists

Dermatology

Annual skin examination

Pulmonology

Basic function testing with follow-up as needed

Gastroenterology

Annual liver function tests, frequently during androgen therapy

Endocrinology

Annual diabetes test, growth curve

Orthopedics

Testing for bone apposition disorder of the forearm and possibly management

Urology

Basic examination for kidney malformations

Cardiology

Basic examination for heart malformations

ENT

Annual hearing test, six-monthly tumor screening as of the second decade of life

Dental

Six-monthly checkups (clinical, no X-rays)
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Self-Care and Support

What should I pay special attention to?

  • Avoiding tobacco and alcohol consumption

  • Oral hygiene and monthly oral self-monitoring for changes in the mucous membranes (or with parental help)

  • No exposure to radiation if avoidable!

  • Please do not take any medications that impair blood platelet function (thrombocyte function), such as non-steroidal antiphlogistic drugs (e.g. aspirin, ibuprofen).

  • Please get in touch with a doctor who is familiar with Fanconi anemia if you notice the following in your child: increased bruising, bleeding from the skin and mucous membranes, fever when neutropenia has already been diagnosed, or increasing paleness and physical weakness. In addition, we recommend seeing a specialist right away if there are changes in the mucous membranes, whether in the mouth or genital region.

Support Groups and Additional Information