Familial Inheritance: Familial Mediterranean Fever
As the name suggests, Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder that causes recurrent fevers and painful inflammation of the abdomen, chest, and joints, usually more common in people of Mediterranean ethnicity.
What is Familial Mediterranean Fever (FMF)?
Familial Mediterranean Fever is a genetic disease that is more common in people living in the Mediterranean region, i.e. people of Turkish, Arab, Armenian, Jewish, Italian, Greek and Spanish descent. The disease is caused by mutations (permanent changes) in a gene called MEFV. This gene is responsible for the production of a protein called pyrin, which is responsible for the inflammatory response. As a result of this mutation in the MEFV gene, the pyrin protein cannot function properly and causes irregularities in inflammation processes. This leads to the development of autoinflammatory symptoms characteristic of this disease.
The disease is transmitted through recessive genes. According to studies, the prevalence rate in Türkiye is 0.1%. However, consanguineous marriages increase the risk of the disease. For this reason, the disease varies in terms of regional prevalence.
Symptoms
The most common symptoms of Familial Mediterranean Fever are as follows:
- Periodic fever: High fever in episodes that can last for days.
- Periodic severe pain: Chest or abdominal pain accompanied by fever is severe enough to cause patients to seek emergency care. In some cases, severe abdominal pain may be mistaken for appendicitis and lead to unnecessary surgery.
- Pain and swelling in joints and muscles.
- Rashes and redness, especially on the legs.
- Fatigue and weakness.
Familial Mediterranean Fever is a genetic disorder; therefore, prevalence would be higher if a family member suffers from FMF. In this regard, people whose first-degree relatives have FMF are more likely to develop it. The main reason why the disease is often seen in Mediterranean countries is its hereditary characteristic.
This genetic disorder can be confused with infectious diseases which are frequently encountered in hospitals because of the common symptoms such as abdominal, muscular, and joint pain. Therefore, if there is a family history of FMF and symptoms of recurrent pain and fever, the possibility of FMF should be consulted with health professionals.
Early diagnosis and regular treatment are critical to controlling the disorder. Although there is no definitive treatment for FMF, the aim is to keep symptoms under control and reduce the risk of complications.
Diagnostic Methods
The diagnosis of FMF is usually based on clinical symptoms and family history. However, genetic testing offers definitive results in diagnosing this disorder.
The three most common mutations in the MEFV gene are M694V (51%), M680I (14%), and V726A (9%). Anatolia Geneworks, with the help of its R&D experience, has developed Real-Time PCR-based mutation analysis kits for the diagnosis of FMF, which is frequently seen in Türkiye and neighbouring countries. Bosphore FMF Mutation Analysis Kits play an important role in the accurate diagnosis of the disorder by detecting various mutations in the MEFV gene, associated with FMF, including M694V, M680I, V726A, A744S, E148Q, F479L, I692del, K695M, K695R, M694I, M694L, P369S, R202Q, and R761H.
Early diagnosis and appropriate treatment methods can significantly improve the patient’s quality of life.
