Fechtner syndrome is a platelet defect. The cause is due to a mutation in the genetic material: Affected parents can pass the syndrome on to their children.
What is Fechtner syndrome?
Fechtner syndrome is an inherited disorder that the World Health Organization (WHO) classifies as a qualitative platelet defect (ICD-10, D69.1). The syndrome thus belongs to the group of hemorrhagic diatheses. It belongs to the rare diseases: There is only one person with Fechtner syndrome for every 100,000 people. In 1985, a research group described the hereditary disease for the first time. Scientists Peterson, Rao, Crosson and White listed symptoms as including nephritis, deafness, congenital cataracts and changes in certain blood cells. The blood cells affected are platelets (thrombocytes). They ensure that the blood clots and in this way close wounds. Geneticists have now been able to identify the gene responsible on the 22nd chromosome.
Causes
Fechtner syndrome results from a mutation, that is, a change in deoxyribonucleic acid (DNA). DNA contains the blueprints for the substances that the human body produces. In this way, it not only determines which building blocks it produces, but the DNA also controls metabolic processes. Errors in the genetic material therefore cause biological processes to run incorrectly. In Fechtner syndrome, the MYH9 gene, which is located on the 22nd chromosome, is mutated. The mutation is a so-called point mutation, i.e. it affects only a single DNA building block. This is located at gene locus q11.2. As a result, the cell does not correctly produce part of the protein NMMHC-IIA. This protein molecule is a non-muscle myosin. Not only platelets, but also monocytes, kidney and cochlear cells need to make NMMHC-IIA. Ultimately, this defect leads to inclusions in the cell plasma. In addition, the mutation interferes with the production of a precursor of platelets called megakaryocytes. In contrast to platelets, megakaryocytes possess cell nuclei and thus also genetic information. Defects in the megakaryocytes lead to problems with the platelets, as the platelets cut themselves off from the megakaryocytes. The combination of a lack of platelets and oversized platelets is also known in medicine as macrothrombocytopenia.
Symptoms, complaints, and signs
The core feature of Fechtner syndrome is the change in platelets in the form of macrothrombocytopenia. In addition, the cells have inclusions, known as leukocyte inclusion bodies. The mutation underlying Fechtner syndrome results in a defect in the production of a protein that is also found in the cochlea. The cochlea forms part of the inner ear. It contains the auditory cells, which are arranged in a snail shell-shaped tunnel. The pressure of sound waves irritates fine hair processes of the auditory cells. This process triggers a nerve signal. As a result of Fechtner’s syndrome the loss of hearing ability occurs. Some patients also suffer from kidney disorders and eye problems.
Diagnosis and course
For diagnosis, physicians usually first consult the clinical picture. If a hereditary disease is suspected, they also ask about the accumulation of corresponding syndromes in the family. Since Fechtner syndrome is dominantly hereditary, at least one parent of the patient must also suffer from the syndrome. A genetic test can detect the mutation that causes Fechtner syndrome. As a differential diagnosis, physicians must exclude Alport syndrome, for example, which has a similar clinical picture. Almost 50 percent of those affected lose their hearing or suffer from severe hearing impairment. The hearing impairment progressively develops and may eventually lead to complete loss of hearing. Eye symptoms may also progress and result in severe visual impairment.
Complications
Fechtner syndrome is associated with a number of complications. For example, the causative mutation interferes with the production of a protein responsible for the formation of auditory cells in the inner ear. As a result, sensory disturbances initially occur in the cochlea and later in the entire auditory canal. Later, nerve disorders develop that permanently damage hearing.In almost half of the cases, this leads to increasing hearing loss in the course of the disease, which presents the affected person with various problems in everyday life. Fechtner’s syndrome also affects the eyes, which can sometimes lead to severe visual disturbances. Later, cataracts may develop. The mutation itself can also have an effect on the processes of other organs and damage them severely. Some patients suffer from 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. Rarely, Fechtner syndrome can cause severe inflammation of the renal filterlets (glomerulonephritis), which can lead to complete renal failure as it progresses.
When should you see a doctor?
In many cases, the symptoms of Fechtner syndrome are not characteristic, so early treatment is usually not possible. However, a physician should always be consulted if there is a sudden loss of hearing in the patient for no particular reason. This hearing loss usually occurs without warning and without the onset of other symptoms. Sudden discomfort in the eyes or visual disturbances may also indicate Fechtner’s syndrome and should be examined by a physician. Furthermore, many affected persons suffer from kidney complaints. Unfortunately, these do not show up directly, so that a blood test is usually necessary for detection. The complaints at the ears and at the eyes worsen in most cases, a self-healing or an improvement does not occur without treatment. The diagnosis of Fechtner’s syndrome can be made by a general practitioner or by the respective specialists. Treatment is usually based on the underlying disease. Complaints of the ears and eyes can be limited by a hearing aid or by a visual aid. However, the underlying disease determines the further course of Fechtner syndrome.
Treatment and therapy
The cause of Fechtner syndrome is not treatable: the error in the genetic material that results from the mutation cannot be subsequently corrected. Therefore, therapy focuses on treating the symptoms. Since people suffering from Fechtner syndrome have too few platelets, they may need to receive transfusions. In particular, a platelet transfusion may prove necessary during surgical procedures 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 at a higher value or only at a lower value. “Deutsches Ärzteblatt” speaks of about 500,000 platelet transfusions required each year because of cancer and blood diseases. Many blood donation services accept platelet donations in addition to whole blood and other donations. After collection, the specimen is stored in canned products until use. Canned products can vary in size; the smallest hold 50-60 ml. If hearing loss occurs as part of Fechtner’s syndrome, a hearing aid may be able to initially maintain hearing. In cases of complete hearing loss, a cochlear implant, which artificially triggers a nerve signal, may be an option. However, whether such solutions are feasible depends on the individual case.
Outlook and prognosis
Because Fechtner syndrome is a hereditary condition, a complete cure is not possible. The condition can be treated symptomatically, which usually significantly improves the sufferer’s quality of life. If treatment 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’s syndrome is not treated, it takes a severe course and may even lead to death. In addition, there is a risk that the disease will be passed on to children. A healthy lifestyle with plenty of exercise and an individual diet additionally improves the outlook. In addition, typical symptoms are greatly reduced by an active lifestyle with physical and mental stimulation. Life expectancy is not limited by Fechtner syndrome.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 prognosis is positive overall, as treatment with medication, surgery and assistive devices can greatly slow the progression of the disease.
Prevention
Targeted prevention is not possible in Fechtner syndrome. Individuals who carry the mutated gene have a 50 percent chance of passing it on to their child if they also have a healthy gene in addition to the disease-carrying gene. This is the case for most affected individuals. This fact can be taken into account in family planning considerations as a very general preventive measure. Individuals who do not have Fechtner syndrome themselves generally cannot inherit the disease – even if other family members have the syndrome.
Follow-up
In most cases, there are no special aftercare options available to the person with Fechtner syndrome. In this case, the affected person relies primarily on direct treatment of the disease to relieve symptoms. Since the syndrome is hereditary, affected individuals who wish to have children should also undergo genetic counseling to prevent inheriting Fechtner syndrome to their descendants. As a rule, Fechtner syndrome does not lead to any particular limitations or complications in everyday life. Caution is only required during surgical procedures or in the case of injuries in order to prevent a large loss of blood. Therefore, physicians should always be informed about Fechtner’s syndrome before interventions are performed. Since Fechtner’s syndrome also significantly increases the risk of cancer, regular examinations of the body should be performed to possibly detect and treat it at an early stage. The discomfort in the ears is usually treated with the help of a hearing aid, so the affected person should always wear the hearing aid to prevent further damage to the ears. Contact with other sufferers of Fechtner’s syndrome can also be useful in this regard, as it is not uncommon for this to result in an exchange of information, which can make the patient’s everyday life much easier.
What you can do yourself
Since affected patients can also pass on Fechtner syndrome to their children, genetic counseling should definitely be carried out in the case of this disease. This can prevent further complications. The syndrome cannot be treated by self-help, so that affected persons are always dependent on medical treatment. In case of hearing loss, the affected person 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 in the case of this disease, for example, to prevent cancer. If vision problems occur, visual aids can be used. Here, not wearing the visual aid can also have a negative effect on the course of the disease. Furthermore, psychological complaints or depression can be avoided by talking to other affected people. A psychologist or a therapist can also be consulted. The help of family or friends also has a positive effect on the course of the disease. Unfortunately, a complete cure cannot be achieved for Fechtner’s syndrome, so patients are usually dependent on treatment for the rest of their lives. Therefore, especially in children, a clarifying conversation about the further course of the disease should take place.
