Familial Mediterranean fever is an autosomal recessive hereditary disease characterized by abdominal pain and fever and can be confused with acute appendicitis.
Familial Mediterranean fever is common in countries bordering the Mediterranean Sea. It is more common in Turkey, North Africa, Armenians, Arabs and Jews. Familial Mediterranean Fever (FMF) is often referred to as FMF.
FMF is characterized by recurrent attacks lasting 3-4 days with fever, abdominal pain due to inflammation of the peritoneum, pain and tingling in the chest cavity (pleurisy - inflammation of the lining of the lungs) and painful swelling of the joints (arthritis). Sometimes a rash on the skin on the front of the legs can also be present.
Usually, these symptoms go away on their own within 3-4 days without treatment. Over time, repeated episodes can cause a protein called amyloid to build up in our body. Amyloid is most commonly deposited in the kidneys and leads to chronic kidney failure. Less commonly, it can build up in the walls of blood vessels, causing vasculitis.
The clinical manifestations are caused by mutations in a gene called pirin. It is passed on through genes. The combination of two diseased genes causes the disease, while people who carry the diseased gene but do not get sick are called "carriers".
In familial Mediterranean fever, treatment with colchicine is known to prevent flares and the development of amyloidosis in the majority of patients. However, amyloidosis remains a serious problem in patients who do not comply with treatment or delay the start of colchicine.
Colchicine treatment should be lifelong. Colchicine treatment is known to be a safe and appropriate treatment. It is recommended even if the patient is pregnant. Colchicine treatment has not been shown to be harmful to babies. However, in pregnant patients with familial Mediterranean fever, amniocentesis is recommended to examine the genetic structure of the fetus.
The diagnosis is based on clinical findings, family history, test results and laboratory tests. In short, these tests support the diagnosis of familial Mediterranean fever as well as elevated leukocytosis, increased sedimentation, elevated CRP and elevated fibrinogen.
Genetic testing of patients is important because mutations identified to date are positive in only 80% of patients with familial Mediterranean fever. However, genetic analysis may be useful in atypical cases.
There are estimated to be 10,000 Mediterranean fever patients worldwide. The genes that carry the disease are recessive genes. If the mother and father have this gene mutation, their children may have familial Mediterranean fever. If one of the parents is a carrier, the disease is not seen in children and can be carried recessively.
The gene causing the disease was described in 1997. Familial Mediterranean fever is known as "suppression of the fight against inflammation in the organism by mutations in the MEFV gene".
Symptoms occur mostly in childhood and the disease progresses in attacks without any symptoms. The frequency of attacks is variable and there are completely no symptoms between attacks. Attacks usually last between 12 and 3 days. In 90% of patients, the first attack occurs before the age of 20.
Attacks of erythema of the joints are long enough to last for weeks or months.
Recurrent fever, pain and recurrent inflammation of the membranous structures of the body, such as the abdomen, pleura and pericardium. Fever may accompany these symptoms. Some patients may experience skin flushing, rash and muscle pain. The main feature of the disease is recurrent attacks, most likely accompanied by fever and abdominal pain. Sometimes patients can live without seizures for a long time.
Attacks in children are sometimes severe enough to prevent them from their daily lives and affect their school attendance. They look very weak and exhausted when they have an attack.
The most common symptoms include fever and abdominal pain. Unilateral chest pain is seen with fever. Apart from these, joint problems are also very common. Swelling, pain and tenderness are felt in the joints. These symptoms disappear within 7 to 14 days.
The joints with the most pain, swelling and tenderness are the ankle and knee joints. It is also seen in the hip, wrist, shoulder and elbow joints. Swelling and redness are the most common symptoms in these joints.
As in patients with rheumatic inflammation and diabetics, there are not always clear indicators in the blood.
The hallmarks of familial Mediterranean fever are recurrent symptoms of the disease and increased inflammation in the body during attacks, the appearance of appropriate clinical symptoms, and patients being completely normal between attacks. Doctors base their diagnosis on these complaints and the patient's medical history.
Genetic tests alone are not enough to make a diagnosis. They should be evaluated together with clinical findings.
Colchicine is the only drug available to control attacks of familial Mediterranean fever and, more importantly, to prevent the development of amyloidosis. Taken in pill form, this medicine reduces inflammation in the body and helps prevent flare-ups. Your doctor will determine the best dose for this.
Conventional colchicine treatment has been shown to reduce the number and severity of attacks in the majority of patients and suppress the development of amyloid in all treated people.
Half of patients have complete seizure resolution, 30-40% have partial suppression and 10% have seizures that are not fully controlled. For a drug to be effective, it must be used regularly throughout life, not only when an attack occurs.
This medicine also has side effects. These side effects include bloating, nausea, abdominal cramps and diarrhea, especially when used in high doses.
In addition to colchicine, nonsteroidal anti-inflammatory drugs (NSAIDs) are used to treat arthritis. The most dangerous condition that can be seen in the disease is called amyloidosis, which occurs when excessive amounts of protein accumulate in the tissues.
If there is a diagnosis of familial Mediterranean fever in the family history or if there is recurrent fever, it is important to see a doctor for early diagnosis. If amyloidosis has not developed, the patient can continue his/her life with the least possible damage with medications.
Familial Mediterranean Fever (FMF),genellikle Akdeniz bölgesinde yaşayan insanlarda görülen genetik bir hastalıktır. Bu hastalık, özellikle Türk, Arap, Ermeni ve Sefarad Yahudisi popülasyonlarında yaygındır. FMF, MEFV genindeki bir mutasyon sonucu ortaya çıkar ve genellikle tekrarlayan ateş ve karın ağrısı, göğüs ağrısı veya eklem ağrısı atakları şeklinde kendini gösterir.
FMF'nin teşhisi ve yönetimi, genetik testlerin önemini vurgular. Genetik testler, MEFV genindeki belirli mutasyonları belirleyebilir ve bu, hastalığın teşhisinde ve tedavisinde kritik bir rol oynar. Özellikle, genetik testler, FMF'nin belirtilerini gösteren ancak başka bir durumdan kaynaklanabilecek kişilerde hastalığın teşhisini doğrulamak için kullanılabilir. Ayrıca, genetik testler, FMF riski taşıyan aile üyelerinin belirlenmesine yardımcı olabilir.
Özel Ankara Genetik Laboratuvarı, FMF genetik testlerinde hızlı ve kaliteli sonuçlar üretme kapasitesine sahiptir. Laboratuvarımız, genetik testlerin doğru ve zamanında yapılmasını sağlayarak, hastaların ve ailelerinin gereksiz stres ve belirsizlikten kaçınmalarına yardımcı olur. Ayrıca, laboratuvarımızın genetik danışmanları, test sonuçlarını anlamak ve ne anlama geldiğini öğrenmek için hastalar ve aileleriyle birlikte çalışır.
FMF'nin yönetimi, genetik testlerin sonuçlarına ve hastanın belirtilerine bağlıdır. En yaygın kullanılan ilaç, inflamasyonu kontrol altına almayı ve atakları önlemeyi hedefleyen kolşisindir. Ancak, tedavi planı her hasta için özelleştirilmiş olmalıdır ve genetik test sonuçları, bu özelleştirilmiş tedavi planının oluşturulmasında önemli bir rol oynar.
Sonuç olarak, FMF'nin teşhisi ve yönetimi, genetik testlerin önemini vurgular ve Özel Ankara Genetik Laboratuvarı, bu süreçte kritik bir rol oynar. Laboratuvarımız, hızlı ve kaliteli genetik test sonuçları sağlayarak, hastaların ve ailelerinin gereksiz stres ve belirsizlikten kaçınmalarına yardımcı olur. Her zaman en güncel ve doğru bilgi için bir sağlık profesyoneli ile görüşmek en iyisidir.
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