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
Stay updated on all scientific advances with Hemostasis Today.
-
Sep 10, 2026, 16:53Flora Peyvandi: A New Approach to Coagulation with Bispecific Antibodies
-
Sep 10, 2026, 16:52Francisco Chacón-Lozsán: Perhaps We Are Treating ‘Sepsis’ When We Should Be Treating an Immune Phenotype
-
Sep 10, 2026, 16:46Aswin K Mohan: HLA Beyond Histocompatibility – Redefining Immune Recognition in Modern Medicine
-
Sep 10, 2026, 16:40Satyam Arora: Pediatric Apheresis – When Every Millilitre Matters
-
Sep 10, 2026, 16:39Marco Moscarelli: When CT Reveals Thrombosis After TAVI
-
Sep 10, 2026, 16:23Antonio Paul: When a Low Platelet Count Does Not Mean Weak Clotting
-
Sep 10, 2026, 16:12Balancing Thrombosis and Bleeding in Antiphospholipid Syndrome
-
Sep 10, 2026, 16:07Miguel Teran: Why ROTEM Will Redefine Major Bleeding Management
-
Sep 10, 2026, 16:04Isaac Okello: Where Skyline Meets Savannah – Quiet Moments at GASCDO in Nairobi