International Familial Mediterranean Fever (FMF) Day is observed annually on September 17. The objective of this day is to raise awareness about the disease, which, according to international studies, affects more than 100,000 people worldwide. In Armenia, it is better known as Periodic or Yerevan Disease.
Despite the fact that the FMF has been known for a long time, many patients continue to face late diagnosis and complications that could have been avoided if detected and treated in time.
Within the framework of this day, NEWS.am Medicine spoke with Hasmik Hayrapetyan, Head of the Laboratory for Diagnostics of Periodic Diseases and Hereditary Diseases at the Center for Medical Genetics and Primary Health Care, who explained what you need to know about FMF.
FMF characteristics and risk group
"Periodic Disease is a hereditary autoinflammatory disease that is widespread among certain ethnic groups. The risk zone includes those peoples who lived in the Mediterranean region several centuries ago: Armenians, Arabs, Jews, Turks," noted Hayrapetyan.
The FMF pathogenesis is based on a mutation in the MEFV gene, which activates inflammasomes and causes excessive production of pro-inflammatory cytokines, and this leads to characteristic attacks of inflammation.
According to Hayrapetyan, FMF mainly manifests itself in childhood, most often in the form of fever, pain in the abdomen and chest. "The attacks last mainly two to three days. Outside of the attacks, patients do not have any symptoms and are considered healthy," she notes.
FMF diagnosis and treatment features
Diagnosis of FMF is carried out in two phases: First, the clinical manifestations of the disease are assessed, and then a genetic examination is performed to confirm or rule out the diagnosis, Hayrapetyan noted.
The specialist added, however, there are cases when the course of the FMF can manifest itself not only in classical, but also in atypical variants, and this complicates the diagnosis.
“If there have already been cases of the Periodic Disease in the family, then there is a possibility of its atypical course. In such families, it is especially important to pay attention to such alarming symptoms as an unexplained increase in [body] temperature, joint pain, as well as skin manifestations. In such cases, it is advisable to undergo a genetic examination, which will enable detecting the disease in time,” Hayrapetyan stated.
Today, FMF cannot be completely cured, she noted. However, according to her, modern treatment considerably improves the quality of life of patients. “The main drug is colchicine, which is taken on a permanent basis. It effectively prevents the occurrence of seizures and the activity of the autoinflammatory process, and most importantly, reduces the risk of developing renal amyloidosis, which is one of the most serious complications of the disease,” Hayrapetyan emphasized.
P.S.: Head of the Center for Medical Genetics and Primary Health Care. Professor Tamara Sarkisyan, and Hasmik Hayrapetyan are at the origins of the FMF studies in Armenia.
After the MEFV gene was first described in 1997 by French researchers and the International FMF Consortium, the MEFV genes were first described in 100 Armenian patients suffering from FMF at the Hôpital Armand-Trousseau clinic in France, under the leadership of Tamara Sarkisyan. Later, the Center for Medical Genetics and Primary Health Care identified the most common MEFV genes among the Armenian population. Since then, more than 60,000 people have undergone Familial Mediterranean Fever screening at the aforesaid center.
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