Fanconi anemia

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

What is Fanconi Anemia?

If Fanconi anemia is not treated at the beginning, it can, in the worst case, lead to the death of the child, as the child then dies of kidney failure.
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Fanconi anemia is an inherited form of anemia (anemia) in medicine. As part of this very rare hereditary disease, the production of red and white blood cells is limited in those affected.

In addition, in many cases Fanconi anemia leads to a greater breakdown of existing blood cells. The Fanconi anemia was named after the Swiss pediatrician Guido Fanconi. 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 regression of the bone marrow. People affected by Fanconi anemia are usually more susceptible to infections and are noticeably pale.

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 mother and father are carriers of the defect - in many cases, carriers of the genetic defect underlying Fanconi anemia are not sick themselves and therefore often do not know about the defect that they can inherit.

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

Symptoms, ailments & signs

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

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

The risk of leukemia from this disease also increases significantly, so that many people affected also get sick with this disease. In addition, Fanconi anemia leads to severe regression of the bone marrow and furthermore to pigment disorders on the skin. Not only those affected, but also the parents and relatives suffer from severe psychological complaints with this disease. As a rule, the life expectancy of those affected is reduced by Fanconi anemia.

Diagnosis & course

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

The suspected diagnosis can then be confirmed primarily by performing a so-called chromosome break analysis; Here, for example, blood cells removed from a patient are chemically manipulated in such a way that their lower survival rate (a marker for the presence of Fanconi anemia) becomes apparent. Imaging methods such as ultrasound are used to determine the shape and severity 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, the bone marrow begins to regress in affected children around 3-5 years of age, and this increases as the disease progresses. With advances in medicine, measures such as bone marrow transplants can cure Fanconi anemia in some cases; However, since cells with the genetic defect still remain in the body of those affected, there is still an increased risk of developing tumors (new tissue formation), for example.

When should you go to the doctor?

Fanconi anemia is usually diagnosed and treated shortly after birth. In the first few years of life, regular visits to the doctor are indicated, because the symptoms are varied and must be treated individually. Most of the time, further malformations and malformations appear in early childhood, which must be clarified and treated. If the child complains of pain or develops unusual symptoms, the responsible doctor should be consulted.

If the child has cardiovascular problems and signs of kidney or liver disease, it is best to take them to the nearest clinic. The responsible doctor can use imaging procedures to determine whether there are any malformations in the internal organs and take the necessary steps.

In any case, Fanconi anemia requires extensive 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 malformations of the heart can be treated by a cardiologist or an internist.

Doctors & therapists in your area

Treatment & Therapy

A possible therapy component in the treatment of Fanconi anemia is the administration of androgen preparations, i.e. preparations that contain artificially produced male sex hormones.

In many patients, these preparations help to stabilize blood formation over a period of up to a few years despite the presence of Fanconi anemia. Since androgen preparations can also have side effects, however, it is possible that the corresponding drug administration may have to be reduced or completely stopped for various affected persons.

One method that can lead to a cure for Fanconi anemia is the transplantation of healthy bone marrow from suitable donors. According to experts, the chances of therapeutic success are comparatively higher if the bone marrow donor is a sibling, i.e. a close relative.

Accompanying the treatment of the underlying disease, there is a therapy for symptoms in the context of Fanconi anemia in coordination with the complaints of an individual affected person.

Outlook & forecast

An existing Fanconi anemia is a malformation syndrome, which occurs only very rarely. Affected people are short stature from birth and suffer from various malformations of all kinds. The prospect and prognosis of a complete healing depends solely on a bone marrow transplant. If a bone marrow transplant takes place, the sick person can be completely cured of Fanconi anemia.

The course of the disease is different if there is no bone marrow transplant. In such a case, considerable complications can be expected. Individuals with pre-existing Fanconi anemia are particularly susceptible to single tumor formation. So if a bone marrow transplant cannot take place, then medical and drug treatment should definitely take place. Only in this way can the lives of the people concerned be preserved.

If such treatment is completely dispensed with, there is even an acute danger to life. Under certain circumstances, malignant tumors can form and spread throughout the body. The existing malformation must also be treated permanently so that there are no later complications. Affected persons who suffer from Fanconi anemia should immediately seek medical and drug treatment. This can have a positive influence on the entire course of the disease.

prevention

In order to be able to prevent hereditary diseases such as Fanconi anemia to a certain extent, couples who want to have children can, for example, have a genetic analysis of their own genes. In this way it can be determined whether both parents are carriers of the genetic defect that underlies Fanconi anemia.If the genetic defect is present in both parents, medical genetic counseling, for example, offers the opportunity to find out about risks and possible steps to take.

Aftercare

In most cases of Fanconi anemia, the patient has very few options for follow-up care. Those affected are primarily dependent on the medical treatment of this disease in order to prevent further complications and complaints, as self-healing cannot occur. In some cases, complete healing can also be achieved.

The life expectancy of the patient is usually not reduced by Fanconi anemia if the disease is treated correctly. Those affected are dependent on taking medication and preparations that alleviate the symptoms. This can lead to side effects, which should be checked regularly by a doctor.

When taking the medication, ensure that the dosage is correct and that it is taken regularly to prevent complications. Treating the symptoms can make everyday life easier for those affected. Since Fanconi anemia can also lead to malformations, some people affected depend on surgical interventions to correct these malformations.

The patient should rest after the procedure and take care of the body. Intensive treatment and care by one's own family or friends can also have a very positive effect on the course of Fanconi anemia.

You can do that yourself

With Fanconi anemia, the patient has no special self-help options. The disease itself can only be prevented to a very limited extent.

Prevention is primarily possible through a genetic analysis, which should be carried out before children grow. This may prevent Fanconi anemia in children. Usually, however, patients are dependent on taking medication to relieve the symptoms. A bone marrow donation can also have a positive effect on the course of the disease.

Since those affected also suffer from pigment disorders, direct sunlight should be avoided. Patients must wear protective clothing and ideally also sunscreen to avoid further skin discomfort. Conversations with other sufferers of this disease can also alleviate possible psychological complaints. In the case of children, sensitive discussions with their parents are necessary in order to explain the further course of the disease. Possible risks and complications can also be mentioned.

Children can suffer from bullying and teasing because of the symptoms and should therefore seek psychological counseling. The help and care of friends and family also has a positive effect on Fanconi anemia.