Evidence map›Paper›PMID 42706496›Full record

ArticleJournal of internal medicine2026

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

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 and 2 more

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Article in Journal of internal medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Majdouline El MoussaouiSorbonne university, Department of internal Medicine, Tenon Hospital, AP-HP, Paris, France.ORCID https://orcid.org/0000-0003-2560-5199
Léa SaveySorbonne university, Department of internal Medicine, Tenon Hospital, AP-HP, Paris, France.ORCID https://orcid.org/0000-0002-1989-1304
Hassina Sofia Aloui-BelhocineSorbonne university, Department of internal Medicine, Tenon Hospital, AP-HP, Paris, France.ORCID https://orcid.org/0009-0006-3627-7740
Jean-Jacques BoffaDepartment of Nephrology, Tenon Hospital, Sorbonne University, Paris, France.ORCID https://orcid.org/0000-0002-6868-8943
Marion DelplanqueSorbonne university, Department of internal Medicine, Tenon Hospital, AP-HP, Paris, France.ORCID https://orcid.org/0000-0002-9876-568X
Catherine Grandpeix-GuyodoSorbonne university, Department of internal Medicine, Tenon Hospital, AP-HP, Paris, France.ORCID https://orcid.org/0009-0009-8830-6357
Irina GiurgeaMolecular Genetics Unit, Trousseau Hospital, Sorbonne University, Paris, France.ORCID https://orcid.org/0000-0002-5035-2958
Laurence CuissetDepartment of Genetics and Molecular Biology, Cochin Hospital, Paris - Cité University, Paris, France.ORCID https://orcid.org/0000-0003-4007-3629
Guilaine BoursierFrench National Reference Centre for Autoinflammatory Diseases (CEREMAIA), Paris, France.ORCID https://orcid.org/0000-0002-2903-3135
Gilles GrateauFrench National Reference Centre for Autoinflammatory Diseases (CEREMAIA), Paris, France.ORCID https://orcid.org/0000-0002-8767-7385
David BuobDepartment of Anatomy and Cytopathology, Tenon Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.ORCID https://orcid.org/0000-0002-6847-6377
Sophie Georgin-LavialleSorbonne university, Department of internal Medicine, Tenon Hospital, AP-HP, Paris, France.ORCID https://orcid.org/0000-0001-6668-8854

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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

methodsWe 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).

resultsAmong 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.

conclusionAAA 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.

Indexed as

AmyloidosisCryopyrin-Associated Periodic SyndromesFamilial Mediterranean FeverHereditary Autoinflammatory DiseasesMevalonate Kinase DeficiencyAdultAgedDelayed DiagnosisFemaleFranceHumansMaleMiddle AgedRetrospective StudiesSerum Amyloid A ProteinSerum Amyloid A ProteinAA amyloidosisautoinflammatory diseases

Identifiers

PMID42706496
PMCPMC13641280

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.