Majdouline El Moussaoui: What If AA Amyloidosis is the First Clue to an Undiagnosed Monogenic Autoinflammatory Disease?
Majdouline El Moussaoui, Postdoctoral Researcher at National Institute of Allergy and Infectious Diseases (NIAID), shared a post on LinkedIn about a recent article she and her colleagues co-authored, published in JIM, adding:
“What if AA amyloidosis is the first clue to an undiagnosed monogenic autoinflammatory disease?
Our latest work, now published in JIM – Journal of Internal Medicine, explores AA amyloidosis across 4 monogenic autoinflammatory diseases (FMF, CAPS, MKD, TRAPS), reflecting the experience of the French National Referral Centre for Monogenic Autoinflammatory Diseases and Inflammatory Amyloidosis CEREMAIA-Tenon and the work of Sophie Georgin-Lavialle and her team.
With better access to genetic diagnosis and effective targeted therapies now available, AA amyloidosis should increasingly be preventable in these diseases. Still, in 40% of our patients, the underlying autoinflammatory disease was diagnosed only at the time of AA amyloidosis or even afterwards.
What makes these data particularly relevant to internists?
Rare diseases do not always present as textbook cases. Sometimes, we first meet them through their complications.
Once amyloidosis was established, the burden remained substantial: nearly half of the patients required kidney transplantation, and 26% died during follow-up.
There is still work to do, not only to recognize these patients earlier, before years of uncontrolled inflammation translate into irreversible organ damage, but also to better understand who remains at risk of developing AA amyloidosis in the era of targeted therapies, and how its prognosis differs across autoinflammatory diseases.”
Title: AA amyloidosis in the four historical monogenicautoinflammatory diseases: Clinical burden andinsights from a retrospective referral-centre study
Authors: Majdouline El Moussaoui, Léa Savey, Hassina Sofia Aloui-Belhocine, Jean-Jacques Boffa, Marion Delplanque, Catherine Grandpeix-Guyodo, Irina Giurgea, Laurence Cuisset, Guilaine Boursier, Gilles Grateau, David Buob, Sophie Georgin-Lavialle
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