"Fanconi Anemia" – What Is It?
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.
How Is "Fanconi Anemia" Diagnosed?
The diagnosis is made using a special blood test (chromosome fragility). Sometimes, this test is inconclusive, 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 occur 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. Not all doctors are familiar with Fanconi anemia because this is a rare disease.
What Is the Risk of Cancer?
While the risk of cancer is generally increased, it rises dramatically in adulthood. Close screening is therefore advisable.
What Is Known About the Development of "Fanconi Anemia"?
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.
Diagnosis of " Fanconi Anemia" What's Next?
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 identify any complications at an early stage in order to achieve the best possible treatment outcome. To this end, regular medical examinations are recommended according to the following schedule (examination recommendations according to AACR 2024 and FARF guidelines):
In general
- Annual physical examination
- Sun protection, avoid exposure to radiation
- HPV vaccination for both boys and girls
- Avoidance of alcohol and smoking
Haemato-Oncology
- Blood count every 3-4 months
- Annual bone marrow sampling and examination
- first time at diagnosis, if normal, yearly from age 2
- in the case of pathological variants in FANCA, FANCC and FANCG, the first bone marrow examination is possible from the age of 3
- early referral to a transplant centre if abnormal
- For FABCD1 (BRCA2) and FANCN (PALB2) only:
- MRI of the head every 3 months until the end of the 3rd year of life, then every 6 months until the end of the 5th year of life
- Ultrasound of the kidneys every 3-4 months (until the end of the 7th year of life)
ENT
- Medical examination including nasal and laryngoscopy from the age of 10
- Annual hearing test
Gynaecology
- Gynaecological examination from the age of 13
- Examination of external genitalia from the age of 13
- Regular check-ups from the age of 18 or earliler for sexually active adolescents
Dentistry
- Six-monthly check-ups (without X-rays)
- Ensure good oral hygiene
Endocrinology
- Diabetes test (initial or if abnormal), growth curve
- Check specific blood values (cortisol, TSH, FT4, HbA1c, 25OH vitamin D, IGF-1, IGFBP3 if necessary)
Immunology
- Monitor immunoglobulin levels as recommended by the immunologist
Dermatology
- Annual dermatological examination
Pulmonology
- Basic function tests with controls as needed
Gastroenterology
- Annual liver function tests, more frequent during androgen therapy
Orthopaedics
- Investigation for bony abnormalities of the forearm and treatment as required
Urology
- Basic screening for renal abnormalities
Cardiology
- Basic screening for cardiac malformations
Fanconi Anemia- What You Can Do Yourself
What should I pay particular attention to?
- 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.
