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Publications

Journal Article Ahead of print

PubMed: 42706496 DOI: 10.1111/joim.70155

AA amyloidosis in the four historical monogenic autoinflammatory diseases: Clinical burden and insights from a retrospective referral-centre study.

J Intern Med

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

Affiliations

  • Sorbonne university, Department of internal Medicine, Tenon Hospital, AP-HP, Paris, France. Department of Internal Medicine and Clinical Immunology, University Hospital of Liège, Liège, Belgium.
  • Sorbonne university, Department of internal Medicine, Tenon Hospital, AP-HP, Paris, France.
  • French National Reference Centre for Autoinflammatory Diseases (CEREMAIA), Paris, France.
  • ERN RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Disease Network), Utrecht, the Netherlands.
  • Fédération Hospitalo - Universitaire INFLAMME, Paris, France.
  • Department of Nephrology, Tenon Hospital, Sorbonne University, Paris, France.
  • Sorbonne university, Department of internal Medicine, Tenon Hospital, AP-HP, Paris, France. French National Reference Centre for Autoinflammatory Diseases (CEREMAIA), Paris, France. ERN RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Disease Network), Utrecht, the Netherlands. Fédération Hospitalo - Universitaire INFLAMME, Paris, France.
  • Molecular Genetics Unit, Trousseau Hospital, Sorbonne University, Paris, France.
  • Department of Genetics and Molecular Biology, Cochin Hospital, Paris - Cité University, Paris, France.
  • Department of Molecular Genetics and Cytogenomics, CHU Montpellier, CeRéMAIA, IRMB, Univ Montpellier, INSERM, Montpellier, France.
  • French National Reference Centre for Autoinflammatory Diseases (CEREMAIA), Paris, France. ERN RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Disease Network), Utrecht, the Netherlands. Fédération Hospitalo - Universitaire INFLAMME, Paris, France.
  • Department of Anatomy and Cytopathology, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

Abstract

BACKGROUND

AA amyloidosis (AAA) remains a life-threatening yet largely preventable complication of monogenic autoinflammatory diseases (AIDs).

METHODS

We retrospectively described patients with AAA secondary to one of the four historical monogenic AIDs (familial Mediterranean fever [FMF], cryopyrin-associated periodic syndrome [CAPS], mevalonate kinase deficiency [MKD] and tumour necrosis factor receptor-associated periodic syndrome [TRAPS]) followed at the French National Referral Centre for Monogenic AIDs and Inflammatory Amyloidosis (2012-2025).

RESULTS

Among 181 patients followed for AAA, 50 (28%) had one of the four monogenic AIDs (FMF n = 41, CAPS n = 4, MKD n = 3, TRAPS n = 2), corresponding to an overall prevalence of 5% among all patients with monogenic AIDs. AAA preceded the diagnosis of the underlying AID in 40% of patients, particularly those with non-FMF diseases. Disease burden remained high, with 46% of patients requiring kidney transplantation, whereas mortality reached 26% during follow-up.

CONCLUSION

AAA continues to reflect delayed diagnosis, highlighting the need for increased awareness among adult healthcare providers, systematic genetic evaluation of unexplained AAA and early inflammatory control.

MeSH

Internal Medicine, Amyloidosis, Diagnosis