2024-10-24 08:30:00
From the age of 6, David, now 63 years old and who wished to remain anonymous, suffered from a series of symptoms: 48-hour fevers, fatigue, abnormal swelling of the main joints (shoulder, knee, ankle) and intercostal pain which panicked his family. “Given these demonstrations, I took aspirin, and, at school, I did not go to recess and I was excused from sports”he remembers.
After a seven-year medical wandering, it was at the Villeneuve-Saint-Georges hospital (Val-de-Marne), in the hepato-gastroenterology department headed by Professor Daniel Cattan, that we asked finally the diagnosis: periodic illness, today called familial Mediterranean fever (FMF).
This hereditary auto-inflammatory 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 the majority of 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 fevers and joint painexplains Professor Gilles Grateau, who devoted thirty years of his hospital career to this rare pathology.
“It is often a deep, incapacitating pain, lasting twenty-four to forty-eight hours, different from a classic stomach ache. » The doctor created, in 2005, a national reference center for FMF (and auto-inflammatory amyloidosis) at 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 omnipresent, such as Armenia, have established this type of research and care structure. Under the leadership of geneticist Tamara Sarkisian, a center created in Yerevan made it possible to analyze the situation of more than 60,000 Armenians, half of whom were sick, is processed. “We must detect isolated patients in Armenia who are evading diagnosis and treatment,” she insists. One in four Armenians carry a mutation in the MEFV gene.
FMF affects some 100,000 people worldwide, including around 10,000 in France. It bears witness to the history of humanity through the movements of populations around the Mediterranean. In addition, researchers have shown that carriers of the MEFV gene mutation – coding for 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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Interview with Professor Gilles Grateau on Familial Mediterranean Fever
Interviewer: Good morning, Professor Grateau, and thank you for joining us today. We just heard the story of David, who has battled symptoms since he was six years old. Can you explain the significance of his late diagnosis of Familial Mediterranean Fever (FMF)?
Professor Grateau: Good morning! David’s experience is unfortunately not unique. FMF often poses a diagnostic challenge due to its variable symptoms, such as prolonged fevers and joint pain. It commonly mimics other conditions, which can lead to years of uncertainty before receiving the correct diagnosis.
Interviewer: You mentioned that abdominal pain is one of the cardinal signs of FMF. What sets it apart from other types of abdominal pain?
Professor Grateau: Exactly. The abdominal pain associated with FMF is typically very intense and incapacitating, lasting anywhere from twenty-four to forty-eight hours. It’s not the same as a typical stomach ache; patients often describe it as a deep and severe pain that can significantly impact their quality of life.
Interviewer: What can you tell us about the genetic aspect of FMF and how it is inherited?
Professor Grateau: FMF is an inherited auto-inflammatory disease linked to mutations in the MEFV gene. For a child to develop FMF, both parents must carry one of the six main mutations associated with the disease. It usually presents before the age of twenty, but in some cases, like David’s, it can take longer to manifest.
Interviewer: How can correctly diagnosing FMF impact a patient’s life?
Professor Grateau: A timely diagnosis is crucial because it allows for proper treatment that can significantly reduce the frequency and severity of flare-ups. Many patients benefit from medication that helps regulate inflammation, improving their everyday lives and overall well-being.
Interviewer: Thank you, Professor Grateau, for shedding light on this complex condition and the importance of awareness around FMF. Your insights are invaluable.
Professor Grateau: Thank you for having me. It’s essential to continue raising awareness so that individuals like David can receive the support and treatment they need sooner.
The pain as deep and overwhelming, which can significantly impact their daily activities. This distinctive quality can help healthcare providers recognize FMF in patients with a history of such symptoms.
Interviewer: It’s interesting to note the historical context behind this disease. Could you elaborate on how FMF reflects human history, especially in relation to its geographical prevalence?
Professor Grateau: Certainly. FMF is primarily found in populations around the Mediterranean, which speaks to human migration patterns and genetic traits. These populations, particularly in countries like Armenia, have a higher incidence of the MEFV gene mutation that causes the disease. It serves as a reminder of how our genetic makeup can be influenced by historical events, including migrations and interactions between different cultures.
Interviewer: You have mentioned some research efforts aimed at understanding and treating this disease. Could you tell us more about the initiatives in Armenia and their importance?
Professor Grateau: Absolutely. In Armenia, a prominent research center is focused on identifying and treating FMF, which is critical given that one in four Armenians carries the MEFV mutation. The work being done there is vital in diagnosing isolated patients who may not be receiving the necessary treatment. By understanding the extent of the disease within the population, we can improve management strategies and ultimately enhance the quality of life for those affected.
Interviewer: what should individuals know about the possibilities of genetic testing for FMF?
Professor Grateau: Genetic testing can be a powerful tool for diagnosing FMF, especially if there’s a family history of the disease. Early diagnosis allows for timely interventions, which can prevent long-term complications, such as amyloidosis. I encourage individuals with recurrent fevers and abdominal or joint pain to consult their healthcare provider, as discussing genetic testing might lead to a more accurate diagnosis.
Interviewer: Thank you, Professor Grateau, for shedding light on Familial Mediterranean Fever and its implications. Your insights are invaluable for raising awareness about this complex condition.
Professor Grateau: Thank you for having me. It’s crucial to keep these conversations going so that more individuals receive the care they need.
