Familial Mediterranean fever is an autosomal recessive inherited disease. Every human has two variants of each gene. One from the mother and one from the father. The gene coding for familial Mediterranean fever is not just a single gene. Many different genes have already been found. However, a diseased gene is not enough to cause the disease to break out because the carriers still have a healthy gene. However, if both parents are carriers of the mutation, statistically every fourth child is affected by both genes. In these children, the disease breaks out. This is completely independent of the sex of the children, because it is an autosomal disease and both men and women have each gene double.
In certain regions, there are a particularly large number of gene carriers. In Turkey, for example, every tenth person carries a mutation in the familial Mediterranean fever. As a result, approximately one out of every 400 children suffer from familial Mediterranean fever. The mutations cause the immune system to be activated regularly, causing inflammation and fever. The inflammations particularly affect the peritoneum, the pleura, the pericardium and the joints.
It often takes several months to years to diagnose familial Mediterranean fever. Those affected often come to the clinic for acute abdominal pain and fever attacks.
After eliminating other causes of fever, a screening test can be performed to examine the most common gene mutations. In a negative test result, the familial Mediterranean fever is not yet excluded, since only some 80 percent of those affected respond positively.
Specialists who deal with familial Mediterranean fever are usually rheumatologists. In most cases, contact can be made directly through the family doctor, pediatrician or clinic. In your own search, the Internet research is recommended. On the Internet, there are pages of self-help groups and information pages, which offer a special list of radar and can also arrange contacts in direct contact. Since the frequency of familial Mediterranean fever in Germany is very low, there are only a few specialists who specialize specifically in this disease.
For most people affected, the disease already breaks out in adolescence. Over 90 percent of those affected have their first fever boost before their twentieth birthday. A fever rush usually lasts two to three days and occurs suddenly. Some sufferers may be triggered by certain food, cold, heat or over-exertion. The fever episodes are accompanied by severe pain in the abdomen, in the chest cavity or in the joints, since inflammations form here.
In the medical history of those affected are often blind arm operations and other abdominal scars. These surgeries were performed on those affected because they are often hospitalized with the symptoms of an acute abdominal stroke before the actual diagnosis is made. In addition to the peritonitis, there are also pleurisy with respiratory pain and pericarditis with infarct-like symptoms.
The artificial skin may also be affected. It is striking that it is almost always a single joint. Especially on the feet, there are also small reddish lesions during a push. An indication of familial Mediterranean fever is also the family history of the person affected, as there are often already affected in the relationship. The origin can make the disease more likely.
Familial Mediterranean fever is a chronic disease that can not be cured. The therapy is therefore purely symptomatic, that is to improve the symptoms and to reduce the relapses. In active thrust, those affected are treated with painkillers. If the non-steroidal analgesics are insufficient, treatment with opioids may also be considered. Also important is the anti-inflammatory therapy with ibuprofen, aspirin or diclofenac.
Depending on the inflamed organ, additional therapies may be required. In case of pericarditis, the heart may be so limited that it comes to arrhythmia, which must be treated with medication.
Between the attacks, those affected feel healthy and have no complaints. During this time, however, the frequency of relapses can be reduced with colchicine therapy. Another thromboprophylactic drug is anakinra, a human interleukin-1 receptor antagonist. Studies have shown a positive effect on the pacing rate. A lower incidence rate leads to fewer complications, such as amyloidosis and the resulting renal failure. After the onset of long-term consequences, dialysis may become necessary.
With a good drug setting, those with familial Mediterranean fever can have a normal life expectancy. However, in just over half of those affected, the frequent relapses result in a massive release of amyloid A, an acute phase protein. This can accumulate in the kidney, leading to renal insufficiency and kidney failure. This is often the reason for a shortened life expectancy of those affected.
Familial Mediterranean fever is a periodic disease. In childhood, the fever episodes are often the only symptom. Later, the flare-ups are accompanied by inflammation of the peritoneum, pleura, or joints.
Between the attacks, those affected feel healthy and are symptom-free. In the late course of the disease, it can lead to renal hypofunction, which makes the periodic disease a permanent restriction of those affected.
Familial Mediterranean fever is a genetic disease. Passing on the disease is therefore only possible from parents to children. Contagion to other people, such as flu or other infectious diseases, does not exist. Neither through blood contacts nor through other contacts a transmission is possible. Anyone who gets the familial Mediterranean fever, has this information since his conception in his genes and can pass on this disease only to his own children.
Familial Mediterranean fever is a chronic hereditary disease. A cure is not possible here. Patients are treated only symptomatically and the disease can be limited. Treatments of genetic diseases with the help of gene scissors are still the subject of current research.