%0 Systematic Review
%T AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.
%A Rodrigues F
%A Cuisset L
%A Cador-Rousseau B
%A Giurgea I
%A Neven B
%A Buob D
%A Quartier P
%A Hachulla E
%A Lequerré T
%A Cam G
%A Boursier G
%A Hervieu V
%A Grateau G
%A Georgin-Lavialle S
%J Rheumatology (Oxford)
%V 61
%N 12
%D 11 2022 28
%M 35262642
%F 7.046
%R 10.1093/rheumatology/keac145
%X 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.<BR>Retrospective study in France associated with a systematic literature review.<BR>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.<BR>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.