Familial Mediterranean fever

At the familial Mediterranean fever (FMF) is a hereditary disease that occurs particularly in the eastern Mediterranean region. It is a rare condition, but it is more common in some populations. The disease with sporadic attacks of fever can trigger amyloidosis.

Familial Mediterranean Fever (FMF)

So-called familial Mediterranean fever occasionally occurs particularly in the eastern Mediterranean region. As the name suggests, multiple cases of the disease are more common within the family. Usually this condition is very rare. However, it occurs more frequently in the eastern Mediterranean. This already suggests a genetic background.

North African Jews, Armenian ethnic groups and parts of the Turkish population are mainly affected by this disease. In total, around 0.1 to 0.2 percent of these population groups suffer from this disease. Familial Mediterranean fever is a chronic disease that manifests itself in sporadic attacks of fever and inflammation of the tunica serosa.

Amyloidosis can develop in around 30 to 60 percent of patients. This can reduce the life expectancy of those affected by developing organ damage, especially the kidneys. If amyloidosis can be prevented, life expectancy will be normal. There are signs that this is not a single disease.

causes

A genetic change in a gene on chromosome 16 with the gene locus 16p13.3 (MEFV gene) was identified as the cause of the familial Mediterranean fever. A protein called pyrin or marenostrin is coded at this point in the gene. The exact function of the protein is not yet known. One can only speculate here. In any case, it consists of 781 amino acids.

It is also only produced in blood cells. Although it migrates into the cell nucleus, it does not have any special binding domains to DNA. It is said to play a role in the regulation of inflammatory (inflammatory) processes by activating certain transcription factors. It is also assumed that the protein has a promoting effect on the production of interleukin-1β. Interleukin-1β is an important factor in inflammatory reactions.

As interleukin-1β is likely to be formed to a greater extent due to the influence of pyrin, there is an increased influx of granulocytes with an increase in inflammatory reactions. That interleukin-1β plays a role was recognized by the improvement in symptoms after treatment with Il-1β antagonists. However, this is not a uniform disease process.

Many mutations in the MEFV gene can lead to similar symptoms. There are cases of autosomal recessive inheritance. However, cases of FMF with an autosomal dominant inheritance have also been found.

Symptoms, ailments & signs

Familial Mediterranean Fever (FMF) is a relapsing disease. The intervals between the individual attacks can last days, months or even years. The less a relapse occurs, the more favorable the prognosis for developing amyloidosis. In the event of an attack, the tunica serosa becomes inflamed. The tunica serosa represents the lining of the chest cavity, the peritoneum cavity, the pericardium and the joint capsules.

Accordingly, the disease manifests itself in the acute phase in chest, abdominal and joint pain. These inflammations are clad in fever. Usually the first attacks occur before the age of 20. The relapses last a few days. Those affected feel healthy between the individual attacks. During the inflammatory process, so-called acute phase proteins are created, which are then deposited in the cell space.

These can then no longer be reached by immune cells and accumulate. The more flare-ups that occur during the chronic illness, the more proteins are deposited. This process is known as amyloidosis. Due to the deposits, the structure of the organs is slowly damaged. The main complication is the development of severe renal insufficiency, which can lead to death.

diagnosis

The inflammation parameters are determined diagnostically during a fever attack. However, this investigation is initially unspecific because many inflammatory diseases show these results. The genetic examination of the corresponding MEFV gene is clearer. However, even a negative finding cannot necessarily rule out a familial Mediterranean fever because other mutations can also play a role.

With the help of the drug metaraminol, an inflammatory flare-up can be provoked in the presence of an FMF. This distinguishes the disease from other possible syndromes in a differential diagnosis.

When should you go to the doctor?

This condition should be evaluated by a doctor. Although it rarely leads to complications or a serious course, in the worst case it can lead to renal insufficiency and thus to death of the person concerned. A doctor should then be seen if the person has regular attacks of fever.

This often leads to reddening of the skin and pain in the abdomen or chest. Likewise, those affected often suffer from general tiredness and exhaustion and also from pain in the joints. Complications can arise, especially with regular or frequent complaints, so that an examination by a doctor is necessary.

If the blood values ​​show abnormalities in the kidneys during another examination, the kidneys should be examined. The diagnosis of the disease can usually be made by an internist or a general practitioner. For treatment, however, the patients are dependent on taking medication. Regular checks and examinations are also advisable in order to detect and avoid damage to the internal organs at an early stage.

Doctors & therapists in your area

Treatment & Therapy

Since familial Mediterranean fever is a genetic disease, it can only be treated symptomatically. A causal therapy is currently not possible. During the acute relapses, pain relievers such as opioids such as morphine or anti-inflammatory drugs such as acetylsalicylic acid or diclofenac are administered. To prevent the development of amyloidosis, the number of relapses must be reduced.

This can be achieved by giving colchicine. Colchicine inhibits the neutrophil granulocytes and thus helps to prevent the inflammatory processes. In this way, the intervals between attacks can be drastically increased. Lately, successes have also been achieved through the administration of the drug anakinra. Anakinra is an antagonist of interleukin-1 by binding to its receptor.

Outlook & forecast

The genetic disorder is treated symptomatically by doctors. Changing the mutated genes is not permitted for legal reasons. Although the disease occurs mainly in people from the Mediterranean region, German doctors cannot perform gene therapy due to legal regulations. Therefore, according to the current state of science, there is no prospect of a cure for the patient.

The symptoms that occur in episodes are treated symptomatically by the attending physician. By administering medication, the existing irregularities can be well controlled and contained. The symptoms will be relieved within a short time until they have completely receded after a few days or weeks.

The aim of the therapy is also to reduce the relapses that occur over the life span. Since there are symptom-free phases again and again in the course of life, the patient experiences times of recovery. This improves well-being and promotes quality of life. Nevertheless, long-term therapy must be adhered to, otherwise the symptoms will return.

If medical care is refused, the prognosis is worsened. The relapses occur at shorter intervals. In addition, the individual phases last longer or become more intense. Since damage to the organs can occur, the average life expectancy is reduced with this disease.

prevention

Human genetic tests can be carried out to prevent the child from being passed on to the offspring. If cases of familial Mediterranean fever have occurred within the family or relatives, there is a certain risk of inheritance. Amyloidosis should be prevented if FMF is present. This can be achieved through continuous treatment with colchicine. Another option is treatment with anakinra.

Aftercare

In most cases, Mediterranean fever does not require any special follow-up measures or options. As a rule, the focus is on the rapid detection and subsequent treatment of the disease so that there are no particular complications or worsening of the symptoms. The earlier the Mediterranean fever is detected, the better the further course of the disease will usually be.

Therefore, a doctor should be consulted at the first symptoms and signs of the disease. Mediterranean fever is usually treated with the help of medication. Those affected depend on regular and, above all, correct use of the medication in order to permanently alleviate the symptoms, as independent healing cannot occur.

In most cases, taking the medication can completely resolve the discomfort. A doctor should always be contacted if anything is unclear. In general, those affected by Mediterranean fever should rest and take care of their bodies. You should refrain from exertion or stressful activities. The trigger of Mediterranean fever should of course continue to be avoided so that the disease does not break out again.

You can do that yourself

Hereditary familial Mediterranean fever belongs to the group of periodic fever syndromes.The disorder occurs more frequently among residents of the eastern Mediterranean. There are currently neither conventional medical nor alternative methods that treat the cause of the disease.

Self-help measures can at best focus on prevention or treatment of symptoms. Since the disease can be associated with dangerous complications if it is not treated professionally, a specialist for the rather rare disease should be called in at the first signs.

Couples whose relatives have developed the familial Mediterranean fever can take advantage of human genetic counseling. As part of this counseling, young couples who are planning a family learn how big the risk is that their offspring will develop this disorder and what stress they will then have to face.

The best self-help measure for people who discover symptoms of familial Mediterranean fever is to seek medical advice promptly. The administration of the active ingredient colchicine can significantly extend the interval between fever attacks, which significantly reduces the risk of amyloidosis.

Acetylsalicylic acid is regularly used to combat the inflammatory processes during acute fever attacks. This substance is also found in willow bark. Patients who prefer naturopathic therapy can, after consulting their doctor, take preparations based on willow bark instead of or in addition to allopathic drugs.