"Fanconi Anemia" – was ist das?
Fanconi anemia (FA) is a hereditary cancer predisposition syndrome that can in principle affect all areas of the body. Patients have an increased risk of bone marrow failure and the development of leukemias and tumors. In addition, endocrine problems such as Hypothyroidism or Diabetes mellitus can occur. Malformations can also occur in people with Fanconi anemia. These can affect the internal organs and usually occur in the heart or kidneys. Malformations of the fingers are also typical, usually affecting the thumbs. Fanconi anemia is often accompanied by short stature, a characteristic facial expression and a small head.
Wie wird die Diagnose "Fanconi Anemia" gestellt?
The diagnosis is made using a special blood test (chromosome fragility). In some cases, this test is not conclusive, so a skin biopsy must be examined. Fanconi anemia can be reliably diagnosed or ruled out using these methods. If the test is abnormal, a genetic analysis often follows.
Such an examination should be carried out in people with unexplained bone marrow failure. It also makes sense to perform this test in young adults with typical Fanconi cancers, such as tumors in the mouth or ENT area, or vulva tumors. Typical malformations can also prompt a doctor to initiate a Fanconi anemia diagnosis. As 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 increased, it rises dramatically in adulthood. Close screening is therefore advisable.
Fanconi Anemia – was ist über die Entstehung bekannt?
If both copies of the genetic material are affected by the disease-causing alteration, this is referred to as a homozygous mutation. If this mutation occurs in an FA gene, a defect in proteins crucial for DNA repair processes leads to increased chromosomal fragility. The chromosomes (carriers of genetic material) become unstable, resulting in typical disease symptoms and an elevated risk of cancer development.
Is There Any Form of Treatment Available?
For the treatment of decreased production of the body’s own blood cells, blood transfusions and the use of growth stimulators for white blood cells (G-CSF), as well as synthetic androgens, are available. In the case of malignant hematologic changes, bone marrow transplantation is the only potentially curative treatment option.
To treat short stature, growth hormones are used, which lead to an increase in growth velocity.
Diagnose Fanconi Anemia. Wie geht es weiter?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some useful tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnose Fanconi Anemia. Wie geht es weiter?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some useful tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
The aim is to detect developing complications early to achieve optimal treatment outcomes. For this purpose, regular medical appointments are recommended according to the following schedule (examination recommendations according to AACR 2016 and FARF Guidelines):
- Hematology
Regular blood count checks, annual bone marrow evaluation (KMP and biopsy) based on clinical assessment, early referral to a transplantation center - Oncology
Half-yearly ENT medical early detection examinations from early adolescence, annual gynecological check-ups from menarche (see below) - Gynecology
Annual gynecological check-ups from menarche/13 years, Pap smear once sexually active or from 18 years old, HPV vaccination recommended for boys and girls - Immunology
Monitoring of immunoglobulin levels as recommended by the immunologist - Dermatology
Annual dermatological examination, starting no later than 18 years old - Pulmonology
After stem cell transplantation: Basic function testing with follow-up as needed - Gastroenterology
Annual liver function tests, more frequent under androgen therapy - Endocrinology
Annual diabetes test, growth curve - Orthopedics
Testing for bone developmental disorders of the forearm and, if necessary, management - Urology
Basic examination for renal malformations - Cardiology
Basic examination for cardiac malformations - ENT Area
Basic hearing test and regular check-ups every 2-3 years, half-yearly tumor screening from age 10 - Dentist
Half-yearly check-ups (clinical, no X-rays)
Fanconi Anemia – was Sie selber tun können
Things to Watch For
- Abstaining from tobacco and alcohol consumption
- Oral hygiene and monthly oral self-inspection for mucosal changes (or with parental help)
- No exposure to radiation if this can be avoided!
- Please do not take any medication that impairs platelet function (thrombocyte function), e.g. non-steroidal anti-inflammatory drugs (e.g. aspirin, ibuprofen).
- Please contact a doctor familiar with Fanconi anemia if you or your child notice increased bruising, bleeding of the skin and mucous membranes, fever with known neutropenia or increasing paleness and physical weakness. In addition, we recommend that any changes to the mucous membranes, whether in the mouth or genital area, be clarified by a specialist as soon as possible.
Further Information
Fanconi anemia is also being researched in our companion projects Liquid Biopsy and ADDRess. Therefore, we encourage patients to register for these projects in addition to the CPS Registry and Fanconi Anemia Registry.
Any further questions?
You can contact us via email or telephone, or visit us in person during our consultation hours. For more information, please visit our contact page.
