Fechtner Syndrome Definition

When fechtner syndrome is a platelet defect. The cause lies in a mutation in the genetic make-up: Affected parents can pass the syndrome on to their children.

What is Fechtner Syndrome?

According to Theinternetfaqs, Fechtner syndrome is a hereditary disease that the World Health Organization (WHO) classifies as a qualitative platelet defect (ICD-10, D69.1). The syndrome is one of the hemorrhagic diatheses.

It is one of the rare diseases: there is only one person with Fechtner syndrome for every 100,000 people. In 1985 a research group first described the hereditary disease. The scientists Peterson, Rao, Crosson and White cited symptoms such as nephritis, deafness, congenital cataracts and changes in certain blood cells.

The affected blood cells are platelets (platelets). They make the blood coagulate and thus close wounds. In the meantime, geneticists have been able to identify the responsible gene on the 22nd chromosome.


Fechtner syndrome is due to a mutation, i.e. a change in deoxyribonucleic acid (DNA). The DNA contains the blueprints for the substances that the human body produces. As a result, it not only determines which building blocks it produces, but the DNA also controls metabolic processes. Errors in the genome therefore lead to biological processes running incorrectly.

In Fechtner syndrome, the MYH9 gene, which is on the 22nd chromosome, is mutated. The change is a so-called point mutation, i.e. it only affects a single DNA building block. This is located at locus q11.2. As a result, the cell does not produce part of the protein NMMHC-IIA correctly.

This protein molecule is a non-muscle myosin. Not only the platelets, but also the monocytes, kidney and cochlea cells have to produce NMMHC-IIA. Ultimately, this defect leads to inclusions in the cell plasma. In addition, the mutation disrupts the production of a platelet precursor called megakaryocytes. In contrast to the thrombocytes, the megakaryocytes have cell nuclei and thus also genetic information.

Defects in the megakaryocytes lead to problems with the blood platelets as the platelets pinch off from the megakaryocytes. The combination of a lack of platelets and oversized platelets is also referred to in medicine as macrothrombocytopenia.

Symptoms, ailments & signs

The key feature of Fechtner syndrome is the change in platelets in the form of macrothrombocytopenia. In addition, the cells have inclusions, so-called leukocyte inclusion bodies.

The mutation that underlies Fechtner syndrome leads to a disruption in the production of a protein that is also found in the cochlea. The cochlea, or cochlea, forms part of the inner ear. It contains the auditory cells, which are arranged in a snail-shell-shaped tunnel. The pressure of the sound waves irritates the fine hair extensions of the auditory cells.

This process triggers a nerve signal. Hearing loss can occur as a result of Fechtner syndrome. Some patients also have kidney problems and eye problems.

Diagnosis & course

For diagnosis, doctors usually first use the clinical picture. If there is a suspicion of a hereditary disease, they also inquire about the accumulation of corresponding syndromes in the family. Since Fechtner syndrome is dominantly hereditary, at least one parent of the sick person must also suffer from the syndrome.

A genetic test can detect the mutation that causes Fechtner syndrome. In terms of differential diagnosis, doctors have to rule out Alport’s syndrome, for example, which has a similar clinical picture. Almost 50 percent of those affected lose their hearing ability or suffer from severe hearing impairments.

The hearing disorder gradually develops and can eventually lead to complete hearing loss. The eye symptoms can also prove to be progressive and cause severe visual disturbances.


Fechtner syndrome is associated with a number of complications. The causal mutation disrupts the production of a protein that is responsible for the formation of auditory cells in the inner ear. As a result, sensory disturbances initially occur in the cochlea and then in the entire auditory canal.

Later on, nerve disorders develop that permanently damage hearing. In almost half of the cases, this leads to increasing hearing loss over the course of the disease, which presents those affected with various problems in everyday life. Fechtner syndrome also strains the eyes, which can lead to severe visual disturbances. A cataract can arise later.

The mutation itself can also affect the processes of other organs and cause serious damage. For example, some patients experience increased bleeding, which can be associated with reddening of the skin, itching, and pain. Other patients complain of flank pain, which can usually be attributed to impaired kidney function. Fechtner syndrome can rarely cause severe inflammation of the kidney filters (glomerulonephritis), which in the further course can lead to complete kidney failure.

When should you go to the doctor?

In many cases, the symptoms of Fechtner syndrome are not characteristic, so that early treatment is usually not possible. However, a doctor should always be consulted if the patient suddenly experiences a loss of hearing for no particular reason. This sudden hearing loss usually occurs without warning and without the occurrence of other symptoms.

Sudden discomfort to the eyes or visual disturbances can also indicate Fechtner syndrome and should be examined by a doctor. Many of those affected also suffer from kidney problems. Unfortunately, these do not show up directly, so that a blood test is usually necessary for detection. The symptoms of the ears and eyes worsen in most cases, and self-healing or improvement does not occur without treatment.

The diagnosis of Fechtner syndrome can be made by a general practitioner or by the respective specialist. When it comes to treatment, the doctor usually depends on the underlying disease. Discomfort to the ears and eyes can be limited by a hearing aid or visual aid. The underlying disease, however, determines the further course of the Fechtner syndrome.

Treatment & Therapy

The cause of Fechtner’s syndrome cannot be treated: the genetic defect caused by the mutation cannot be subsequently corrected. Therapy therefore focuses on treating the symptoms. Because people with Fechtner syndrome do not have enough platelets, they may need to receive transfusions. A platelet transfusion may prove necessary, particularly in the case of surgical interventions or blood loss.

In general, a limit of 10,000 platelets per µL applies; In individual cases, however, a platelet transfusion may already be necessary if the value is higher or if the value is lower. “Deutsches Ärzteblatt” speaks of around 500,000 platelet transfusions that are required every year for cancer and blood diseases. In addition to whole blood and other donations, many blood donation services also accept platelet donations.

After removal, the preparation is stored in tins until it is used. The canned food can be of different sizes; the smallest have a capacity of 50–60 ml. If Fechtner’s syndrome causes hearing loss, a hearing aid may initially be able to maintain hearing ability.

If you have complete hearing loss, you might consider a cochlear implant, which artificially triggers a nerve signal. However, whether such solutions can be implemented depends on the individual case.

Outlook & forecast

Since Fechtner syndrome is a hereditary disease, a complete cure is not possible. The condition can be treated symptomatically, which usually significantly improves the patient’s quality of life. If the therapy is given early, a positive prognosis is possible. Depending on the type and severity of the symptoms, patients can often lead a relatively symptom-free life into old age.

If Fechtner syndrome is not treated, it becomes severe and can even be fatal. There is also the risk that the disease will be passed on to the children. A healthy lifestyle with lots of exercise and an individual diet also improves the prospect. In addition, typical complaints are greatly reduced by an active lifestyle with physical and mental support. Fechtner syndrome does not limit life expectancy.

However, complaints such as cataracts or progressive hearing loss limit the quality of life with increasing age and can thus also promote psychological complaints. Nevertheless, the overall prognosis is positive, as treatment with medication, surgery and aids can greatly slow the progression of the disease.


Targeted prevention is not possible with Fechtner syndrome. People who carry the mutated gene have a 50 percent chance of passing it on to their child if, in addition to the disease-carrying gene, they also have a healthy gene. This is the case for most of those affected.

This fact can be incorporated into family planning considerations as a very general preventive measure. People who do not have Fechtner syndrome themselves can usually not inherit the disease – even if other family members suffer from the syndrome.


In most cases, there are no special follow-up options available to those affected by Fechtner syndrome. The person affected is primarily dependent on direct treatment of the disease in order to alleviate the symptoms. Since the syndrome is hereditary, those affected who want to have children should also undergo genetic counseling in order to prevent Fechtner syndrome from being passed on to their descendants.

As a rule, Fechtner syndrome does not lead to any particular restrictions or complications in everyday life. Care should only be taken in the event of surgery or injury to prevent major blood loss. Therefore, doctors should always be informed about Fechtner syndrome before surgery.

Since Fechtner syndrome also significantly increases the risk of cancer, regular examinations of the body should be carried out in order to detect and treat them at an early stage. The symptoms of the ears are usually treated with the help of a hearing aid, so that the person affected should always wear the hearing aid so as not to damage the ears further. Contact with other people affected by Fechtner syndrome can also be useful, as it is not uncommon for information to be exchanged, which can make everyday life much easier for the patient.

You can do that yourself

Since affected patients can pass Fechtner syndrome on to their children, genetic counseling should definitely be carried out in the case of this disease. This can avoid further complications. The syndrome cannot be treated by self-help, so those affected always need medical treatment.

In the event of a hearing loss, the person affected should definitely wear a hearing aid. If the hearing aid is not worn, the hearing loss can usually worsen. Various preventive examinations are also necessary for this disease, for example to avoid cancer. If visual disturbances occur, visual aids can be used. Not wearing the visual aid can also have a negative effect on the course of the disease.

Furthermore, talking to other affected people can avoid psychological complaints or depression. A psychologist or a therapist can also be consulted. Help from family or friends also has a positive effect on the course of the disease. Unfortunately, a complete cure cannot be achieved in Fechtner syndrome, so that the patients are usually dependent on treatment for their entire life. A clarifying discussion about the further course of the disease should therefore take place, especially with children.

Fechtner Syndrome