Fanconi anemia – causes, symptoms & treatment

The hereditary disease Fanconi anemia occurs in very rare cases. The disease can be cured under appropriate circumstances.

Table of Contents

What is Fanconi anemia?

In medicine, Fanconi anemia is an inherited form of anemia (anemia). As part of this very rare hereditary disease, the production of red and white blood cells is restricted in those affected.

In addition, Fanconi anemia leads to this in many cases, that existing blood cells are broken down to a greater extent. Fanconi anemia was named after the pediatrician Guido Fanconi, who comes from Switzerland. Fanconi anemia does not show the same appearance in every person affected; Different subgroups of the disease are therefore defined in medicine.

It is estimated that only 5 to 10 out of 1,000,000 newborns in Germany are affected by Fanconi anemia. Typical symptoms that can be associated with the disease include malformations, a comparatively small head circumference and / or a regression of the bone marrow. Those affected by Fanconi anemia are usually more susceptible to infections and show a noticeable pallor.

causes

Fanconi anemia is caused by an inherited genetic defect. There is only a risk of the genetic defect being passed on by the parents if both the mother and the mother father Carriers of the defect are – in many cases, carriers of the genetic defect on which Fanconi anemia is based are not themselves ill and therefore are often unaware of the defect that they can inherit.

If both parents are carriers of the corresponding genetic defect, there is an approximate 25% risk of pregnancy in the child that Fanconi anemia will occur in the child.

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Symptoms, complaints & sign

Fanconi anemia is associated with very serious complaints, all of which have a very negative impact on the quality of life of the person affected. As a rule, the patients suffer from various malformations that are already congenital and thus lead to complaints at a young age. The malformations can affect different regions, so the arms, ears, kidneys and heart are often affected.

If Fanconi anemia is not treated at the beginning, in the worst case it can also lead to the death of the child, who then dies of kidney failure. Fanconi anemia often causes patients to suffer a lot small Head or short stature. As a result, many patients do not feel beautiful and therefore suffer from inferiority complexes or from a significantly reduced self-esteem.

Likewise, the risk of leukemia from this disease increases significantly, so that many of those affected also develop this disease. Furthermore, Fanconi anemia leads to a violent regression of the bone marrow and further to pigment disorders on the skin. Not only those affected themselves, but also the parents and their relatives suffer from severe psychological complaints with this disease. As a rule, the life expectancy of the person affected is reduced by Fanconi anemia.

diagnosis & course

The suspected diagnosis of Fanconi anemia can be made in many cases based on typical symptoms. In addition to the symptoms mentioned, this also includes, for example, a slight squint in those affected or light, brownish pigment spots (also known as so-called Café on lait spots).

The suspected diagnosis can then be confirmed primarily by carrying out a so-called chromosomal break analysis; Blood cells taken from a patient, for example, are chemically manipulated to show their lower survival rate (a marker for the presence of Fanconi anemia). Imaging methods such as ultrasound are used to determine the shape and manifestation of malformations of internal organs in further steps.

Depending on the form of Fanconi anemia, the course of the disease also differs. In most cases, however, bone marrow regression occurs in affected children aged about 3-5 years, which increases in the course of the disease. With advances in medicine, Fanconi anemia can be cured in some cases through measures such as bone marrow transplants; however, since affected persons still have cells in the body that have the genetic defect, there is still an increased risk of developing tumors (new tissue formation), for example..

When to go to the doctor?

Fanconi anemia is usually diagnosed and treated shortly after birth. Regular doctor visits are advisable in the first years of life, because the complaints are multifaceted and must be treated individually. Mostly, further malformations and malformations occur in early childhood, which must be clarified and treated. If the child complains of pain or if unusual symptoms occur, the responsible doctor should be consulted.

With cardiovascular complaints and signs of kidney or liver disease, the child is best taken to the nearest clinic. The doctor responsible can use imaging techniques to determine whether there are malformations of the internal organs and take the necessary steps.

Fanconi anemia therefore requires comprehensive monitoring and treatment by a specialist. Since there are usually various disorders, other doctors must be consulted. In the case of pigment disorders, for example, you can speak to the dermatologist, while cardiac malformations can be treated by a cardiologist or an internist.

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