2024-10-24 08:30:00
Since the age of 6 David, who is now 63 and wished to remain anonymous, has suffered from a series of symptoms: fever for 48 hours, tiredness, abnormal swelling of the main joints (shoulder, knee, ankle) and intercostal pain which threw his family into panic. “Given these events, I took aspirin and, at school, I didn’t go to recess and I was exempted from sports”remember.
After a seven-year medical wandering, it was at the Villeneuve-Saint-Georges hospital (Val-de-Marne), in the hepato-gastroenterology department directed by Professor Daniel Cattan, that we finally asked for the diagnosis: periodic disease, today called familial Mediterranean fever (FMF).
This hereditary autoinflammatory disease linked to the mutation of the MEFV gene, (Mediterranean fever), identified in 1997 by two teams of researchers, French and international, is transmitted if both parents carry one of the six main mutations. In most cases the first symptoms appear before the age of 20. “ It is not always easy to make the right diagnosis when faced with abdominal pain, one of the cardinal signs of FMF, with fever and joint painexplains Professor Gilles Grateau, who has dedicated thirty years of his hospital career to this rare pathology.
«It is often a deep, disabling pain that lasts from twenty-four to forty-eight hours, different from the classic stomach ache. » The doctor created, in 2005, a national reference center for FMF (and autoinflammatory amyloidosis) at the Tenon Hospital in Paris. This is today directed by Professor Sophie Georgin-Lavialle, co-author of Familial Mediterranean Fever. 100 questions to better manage the disease (Katana Santé, 128 pages, 14.50 euros).
Witness to the history of humanity
Most countries where the disease is ubiquitous, such as Armenia, have established these types of research and care facilities. Under the guidance of geneticist Tamara Sarkisian, a center created in Yerevan has made it possible to analyze the situation of over 60,000 Armenians, half of whom are sick. is processed. “We must identify isolated patients in Armenia who escape diagnosis and treatment,” he insists. One in four Armenians carries a mutation in the MEFV gene.
FMF affects approximately 100,000 people worldwide, including around 10,000 in France. It bears witness to the history of humanity through the movements of people around the Mediterranean. Furthermore, the researchers demonstrated that carriers of the MEFV gene mutation – which encodes pyrin, which plays a role in innate immunity – would have been protected, during the Middle Ages, against Yersinia pestisthe plague bacillus.
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