AA Amyloidosis complicating cryopyrin-associated ...
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
AA Amyloidosis complicating cryopyrin-associated periodic syndrome: a study on 86 cases including 23 French patients and systematic review.
Author(s) :
Rodrigues, François [Auteur]
CHU Tenon [AP-HP]
Cuisset, Laurence [Auteur]
Hôpital Cochin [AP-HP]
Giurgea, Irina [Auteur]
Neven, Benedicte [Auteur]
Institut Necker Enfants-Malades [INEM - UM 111 (UMR 8253 / U1151)]
Buob, David [Auteur]
CHU Tenon [AP-HP]
Quartier, Pierre [Auteur]
Hôpital Necker - Enfants Malades [AP-HP]
Hachulla, Eric [Auteur]
Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
Lequerré, Thierry [Auteur]
Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices [PANTHER]
Cam, Gerard [Auteur]
CH de Saint-Malo [Broussais]
Boursier, Guilaine [Auteur]
Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] [CeRéMAIA - Hôpital André Mignot]
Hervieu, Valérie [Auteur]
Hôpital Edouard Herriot [CHU - HCL]
Grateau, Gilles [Auteur]
Groupe de recherche clinique Amylose AA Sorbonne Université [GRC 28 - GRAASU]
Georgin-Lavialle, Sophie [Auteur]
Groupe de recherche clinique Amylose AA Sorbonne Université [GRC 28 - GRAASU]
CHU Tenon [AP-HP]
Cuisset, Laurence [Auteur]
Hôpital Cochin [AP-HP]
Giurgea, Irina [Auteur]
Neven, Benedicte [Auteur]
Institut Necker Enfants-Malades [INEM - UM 111 (UMR 8253 / U1151)]
Buob, David [Auteur]
CHU Tenon [AP-HP]
Quartier, Pierre [Auteur]
Hôpital Necker - Enfants Malades [AP-HP]
Hachulla, Eric [Auteur]

Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
Lequerré, Thierry [Auteur]
Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices [PANTHER]
Cam, Gerard [Auteur]
CH de Saint-Malo [Broussais]
Boursier, Guilaine [Auteur]
Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] [CeRéMAIA - Hôpital André Mignot]
Hervieu, Valérie [Auteur]
Hôpital Edouard Herriot [CHU - HCL]
Grateau, Gilles [Auteur]
Groupe de recherche clinique Amylose AA Sorbonne Université [GRC 28 - GRAASU]
Georgin-Lavialle, Sophie [Auteur]
Groupe de recherche clinique Amylose AA Sorbonne Université [GRC 28 - GRAASU]
Journal title :
Rheumatology
Abbreviated title :
Rheumatology (Oxford)
Volume number :
61
Pages :
4827–4834
Publication date :
2022-03-12
ISSN :
1462-0332
English keyword(s) :
Cryopyrin-associated periodic syndrome (CAPS)
NLRP3
AA amyloidosis
IL1 inhibitors
NLRP3
AA amyloidosis
IL1 inhibitors
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Objective
Cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable inherited autoinflammatory condition including familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS) and chronic ...
Show more >Objective Cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable inherited autoinflammatory condition including familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS) and chronic infantile neurologic cutaneous articular syndrome (CINCA). Our objective was to describe the main features of CAPS AA amyloidosis (AA-CAPS) associated and the efficacy of IL-1 inhibitors in this indication. Methods Retrospective study in France associated with a systematic literature review. Results Eighty-six patients were identified: 23 new French cases and 63 from the literature, with a median age at amyloidosis diagnosis of 39 years old. CAPS subtypes were MWS (n = 62), FCAS (n = 9), frontier forms between MWS and FCAS (n = 12) and between CINCA and MWS (n = 3). NLRP3 had been sequenced in 60 patients (70%) and the most frequent mutation was R260W (60%). Three AA-CAPS patients displayed somatic NLRP3 mutations. Death occurred in 35 patients (41%), none of whom having ever received IL-1 inhibitors. Twenty-eight patients (33%) received IL-1 inhibitors, with a >50% decrease in proteinuria in 89% of cases. Conclusion AA amyloidosis can occur in nearly all CAPS subtypes. IL-1 inhibitors are effective, underlining the necessity of an early diagnosis of CAPS in order to start this treatment as soon as possible among AA-CAPS patients.Show less >
Show more >Objective Cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable inherited autoinflammatory condition including familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS) and chronic infantile neurologic cutaneous articular syndrome (CINCA). Our objective was to describe the main features of CAPS AA amyloidosis (AA-CAPS) associated and the efficacy of IL-1 inhibitors in this indication. Methods Retrospective study in France associated with a systematic literature review. Results Eighty-six patients were identified: 23 new French cases and 63 from the literature, with a median age at amyloidosis diagnosis of 39 years old. CAPS subtypes were MWS (n = 62), FCAS (n = 9), frontier forms between MWS and FCAS (n = 12) and between CINCA and MWS (n = 3). NLRP3 had been sequenced in 60 patients (70%) and the most frequent mutation was R260W (60%). Three AA-CAPS patients displayed somatic NLRP3 mutations. Death occurred in 35 patients (41%), none of whom having ever received IL-1 inhibitors. Twenty-eight patients (33%) received IL-1 inhibitors, with a >50% decrease in proteinuria in 89% of cases. Conclusion AA amyloidosis can occur in nearly all CAPS subtypes. IL-1 inhibitors are effective, underlining the necessity of an early diagnosis of CAPS in order to start this treatment as soon as possible among AA-CAPS patients.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
Inserm
CHU Lille
Inserm
CHU Lille
Submission date :
2024-01-12T02:05:54Z
2024-03-25T10:16:06Z
2024-04-23T12:30:57Z
2024-03-25T10:16:06Z
2024-04-23T12:30:57Z