Epstein Syndrome

Epstein Syndrome Definition and Meaning

The Epstein syndrome is the most serious form of MHY9-associated diseases and syndromes, like all the group caused by mutations in the gene MHY9 and autosomal dominant trait. The syndrome manifests itself as a lack of platelets, hearing loss, and inflammation of the kidneys. Treatment is symptomatic.

What is Epstein Syndrome?

The group of diseases of thrombocytopenia caused by MYH9 gene mutation is also known as the group of MYH9-associated diseases. These are rare hereditary diseases, including the Sebastian syndrome, the May-Hegglin anomaly and the Fechtner syndrome, as well as the so-called Epstein syndrome.

Because of its rarity, there are no reliable data on the epidemiology or the precise prevalence of the symptom complex. For MYH9-associated diseases, research has so far assumed a frequency of between one and nine cases in 1,000,000 people. The prevalence for Epstein syndrome as a single disease would be far below 1: 1,000,000.

Epstein syndrome has been described in fewer than 100 familial cases since it was first described. At the end of the 20th century, it was Charles J. Epstein who first described the syndrome and gave it its name. Epstein syndrome is also known as nephrotic syndrome because it manifests itself not only in the platelets but also in the kidneys.


Like all MYH9-associated diseases, Epstein syndrome does not appear to be sporadic. A familial cluster was observed in the 100 documented cases. Apparently the symptom complex is based on an autosomal dominant inheritance. The MYH9-associated diseases are caused by a mutation in the MHY9 gene.

Depending on the individual disease, the exact location of the mutation differs, so that different symptoms characterize the individual diseases of the group. In Epstein syndrome, point mutations of the MYH9 gene are present that affect chromosome 22 in the q11.2 gene locus. The MHY9 gene codes for heavy chains of NMMHC-IIA, the so-called non-muscle myosin.

It is a protein found in blood cells such as monocytes and platelets, in the cochlea and kidneys. The mutation of the Epstein syndrome changes the conformation in the head part of the protein and disrupts the aggregation to the Döhle bodies. This creates an abnormal cytoskeleton for the megakaryocytes, which are considered to be the precursors of platelets.

Symptoms, ailments & signs

Epstein syndrome patients suffer from a complex of clinical symptoms. One of the most important symptoms is the characteristic lack of platelets, the so-called thrombocytopenia. In addition, there is a functional disorder also known as thrombocytopathy. The few platelets in the patient’s blood are significantly enlarged.

In Epstein’s syndrome, this macrothrombocytopenia, unlike other syndromes in the group, is not associated with the inclusion of leukocytes. Since the mutated protein from the MHY9 gene is also found in the cochlea, some patients with Epstein’s syndrome develop hearing loss over time, which progresses progressively. The hearing loss mainly affects the high frequency range.

In addition to these manifestations, in most cases there is a manifestation in the kidneys. This is usually a glomerulonephritis, which is associated with an inflammation of the kidney filters. The symptoms of the kidneys and ears do not necessarily have to occur, however. If the disturbed aggregation of the NMMHC-IIA protein is compensated for with the help of another form of myosin, the first-mentioned symptoms of thrombocytopathy and macrothrombocytopenia remain.


Epstein syndrome is a congenital disease. The changes in platelets therefore manifest themselves immediately after birth. However, since these changes are not directly visible, the diagnosis is usually made late. Often only the symptoms of the kidneys or the progressive hearing loss lead to a detailed diagnosis.

Histologically, the shape-altered platelets are noticeable. The platelet deficiency is also an important criterion for a diagnosis. The distinction from other syndromes of the group occurs at the latest with the symptoms of the kidneys. The lack of leukocyte inclusions also distinguishes Epstein syndrome from other MHY9-associated diseases.

A molecular genetic analysis, which provides evidence of the genetic mutation, can be used to confirm a suspected diagnosis. Epstein syndrome is sometimes the most serious syndrome from the group of MHY9-associated diseases.


Due to Epstein syndrome, in most cases the patient suffers from very serious complications. Usually there is complete hearing loss and kidney inflammation. Due to the hearing loss, the person affected is severely restricted in their everyday life. This can lead to severe psychological problems, especially in young people.

The hearing loss does not have to occur suddenly, but it can worsen as the disease progresses. The treatment can only combat the symptoms that occur in a targeted manner, but it is not possible to completely cure Epstein syndrome. The hearing loss can be compensated for with hearing aids. This is usually only possible if there has not been a complete loss of hearing.

If the hearing loss persists at a certain level, implants can also be placed in the ear. There are no complications. Complications can occur with bleeding and surgery and are therefore treated with platelet concentrates. If there are infections or inflammations in the kidneys, these can also be fought with the help of medication. However, the patient must live with the syndrome their entire life.

When should you go to the doctor?

If the person concerned is suffering from changes in their usual hearing ability, there is cause for concern. A doctor should be consulted as increased hearing loss can develop without treatment. The hearing problems occur particularly in the frequency range of the higher tones and should be examined by a doctor.

Renal disorders should also be presented to a doctor and treated by him. A doctor is needed if stabbing or pulling pain occurs in the region of the kidneys. If there are changes in urine or problems urinating, these signs should be discussed with a doctor.

If the symptoms spread or if the intensity of the symptoms increases, a doctor should be consulted as soon as possible. If the person concerned suffers from sudden and incomprehensible nosebleeds or bleeding gums, a doctor should be consulted. If bleeding is difficult to stop after mild to moderate cuts, a doctor should be consulted.

If you have a rapid heartbeat, high blood pressure, dizziness or general weakness due to excessive blood loss, it is necessary to consult a doctor. A doctor should be consulted in the event of insomnia, increased stress, internal discomfort or a vague feeling of illness. Medical care is required if the symptoms persist for several days or weeks.

Treatment & Therapy

In order to treat the Epstein syndrome causally, a gene therapy treatment would be necessary. These treatment measures are currently the subject of medical research, but have not yet reached the clinical phase. For this reason, Epstein syndrome has so far been considered incurable. At the present time, treatment is purely symptomatic.

Platelet deficiency can be compensated for by means of platelet concentrates or a platelet transfusion, for example. This is especially necessary in the context of operations or injuries in order to initiate the coagulation cascade and to keep the bleeding tendency of the patient under control. Hearing aids or later implants are usually offered against the progressive hearing loss.

Kidney symptoms are treated separately. Against nephritis patients in the anti-inflammatory active substance can methylprednisolone be administered in high dose. This therapy usually takes place over several days and corresponds to what is known as shock therapy. Additional active ingredients such as cyclophosphamide suppress the immune system.

An alternative treatment method to the drug treatment of kidney inflammation is blood filtering in the form of plasmapheresis. In the context of Epstein syndrome, however, drug anti-inflammatory treatment is given priority, as the disease is not an autoimmune disease.

Outlook & forecast

Epstein syndrome offers the sufferer no prospect of a cure. The prognosis is unfavorable because it is a genetic disease. Interventions in the genetics of humans are forbidden to scientists and medical professionals according to the current legal requirements. Therefore, the treating physicians can focus exclusively on symptomatic treatment and try to minimize the existing symptoms.

Although the changes and symptoms are already manifested at birth, the diagnosis is often only made in the later development process.

The impairment or loss of hearing is treated with hearing aids and surgical interventions. Implants are used to improve hearing. These possibilities are to be understood as assistance. Limitations and impairments of hearing remain despite all efforts.

The disorders of the kidney function are normally treated by administering drugs. If the outcome is favorable, shock therapy is used, in which the kidney function is stabilized and optimized. If the organism does not accept the active substances sufficiently, the blood is filtered. This significantly affects the patient’s quality of life.

Consequential diseases are possible at any time with Epstein syndrome. In addition to the consequential physical damage, mental illnesses can develop. Both have a negative impact on the patient’s overall prognosis.


Genetic factors in particular underlie Epstein syndrome. For this reason, the disease has so far only been prevented by genetic counseling during family planning. If there is a family disposition for the disease, potential parents may decide not to have children of their own.


In the case of epispadias, the patient usually has only very limited options for follow-up care. The affected person is primarily dependent on a medical examination and treatment by a doctor in order to permanently alleviate the symptoms of epispadias. If the disease is not treated in time, it can lead to serious complications and complaints that can make the patient’s life significantly more difficult.

First and foremost, an early diagnosis should therefore be carried out. The treatment of the epispadias usually takes place through a surgical procedure. This does not result in any particular complications, and the person affected should rest after the procedure and take care of their body. Complete recovery can only occur through strict bed rest.

As a rule, strenuous and stressful activities should also not be performed. In many cases, even after successful treatment, those affected are dependent on regular examinations by a doctor, above all to guarantee proper wound healing.

Care and support from one’s own family or friends also has a positive effect on the course of the epispadias and can prevent psychological upsets. The life expectancy of the person affected is usually not restricted by this disease.

You can do that yourself

Epstein syndrome is a hereditary disease that manifests itself primarily as a platelet deficiency, impaired hearing and chronic kidney infections.

There are currently neither conventional medical nor alternative methods to treat the cause of Epstein syndrome, as the disease is genetic. For this reason, no preventive measures are possible. Potential carriers of the hereditary disease should seek advice before starting a family. As part of the counseling, those affected are informed about the likelihood that they will pass the genetic defect on to their offspring and what consequences can be expected if the disease breaks out.

If Epstein syndrome has already occurred in a family, those affected should always inform their doctor. This also applies in the case of minor interventions, for example at the dentist. The lack of platelets, which is characteristic of the disease, can be dangerous even with generally harmless interventions, such as the extraction of a tooth.

In some people, the disease is associated with deterioration in hearing. In particular, high notes can usually no longer be heard. Patients do not have to simply accept this symptom of the disease. Usually they can be helped with a hearing aid or implants.

Epstein Syndrome

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