The disease is characterized by:
- Bone marrow failure or reduced blood cell production (of red and white blood cells and of platelets).
- Congenital abnormalities.
- An increased risk of developing cancer.
Not all of these symptoms necessarily occur.
Symptoms of this disease
Sometimes children with Fanconi Anemia are born with abnormalities that fit the disease, such as missing a thumb, or they have a striking appearance (small head and eyes), are short or have a lot of coffee-colored spots. In other children, there are no typical external characteristics and the diagnosis is only made when they develop bone marrow failure. Children with Fanconi Anemia also often have Myelodysplastic Syndrome or Leukemia. In the case of bone marrow failure and MDS, there are reduced blood cell counts that can cause anemia, infections or bleeding.
How do we make the diagnosis?
Patients with Fanconi Anemia cannot repair damage to the DNA, especially breaks in the chromosomes. By mixing their blood with an agent that causes chromosome breakage, it can be seen whether the body is capable of repairing this. If this does not happen, we can conclude that it is Fanconi Anemia. DNA research is then used to determine which DNA mutation is responsible for the disease. This makes it possible to investigate whether family members have the disease. This is also important to determine whether a sibling could be a donor for stem cell transplantation.
Treatment of Fanconi Anemia
Bone marrow failure or MDS in Fanconi Anemia is treated with a stem cell transplantation where blood cell production is replaced by that of a healthy donor. This is an intensive treatment with a risk of complications. If there is a slight reduction in blood cells it means we don't have to use this treatment so we will first try a blood transfusion.
Treatment is usually necessary for the congenital abnormalities and frequently occurring hormonal problems. You will receive information about the required treatment from your medical specialist. In addition, people with Fanconi Anemia are regularly examined for the development of cancer. The care is therefore complex and various specialists are involved. The Princess Máxima Center has a specialized outpatient clinic where children and adults with Fanconi Anemia undergo treatment.
Children with Fanconi Anemia are treated in the Hematology-oncology department.