ABSTRACT
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.
Subject(s)
Amyloidosis , Cryopyrin-Associated Periodic Syndromes , Humans , Adult , Cryopyrin-Associated Periodic Syndromes/complications , Cryopyrin-Associated Periodic Syndromes/drug therapy , Cryopyrin-Associated Periodic Syndromes/genetics , NLR Family, Pyrin Domain-Containing 3 Protein/genetics , Retrospective Studies , Mutation , Amyloidosis/etiology , Amyloidosis/genetics , Interleukin-1/geneticsABSTRACT
We report a 61-year-old woman with a history of untreated inflammatory symptoms, who underwent a Bentall procedure for a rapidly evolving aneurysm. Postoperatively, she presented with a sub-sternal pulsatile mass communicating with a periaortic collection. After excluding surgical and infectious complications, an inflammatory seroma due to an uncontrolled vasculitis was suspected. We proposed a non-surgical approach involving immunosuppressive therapy.