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Clinical spectrum of cryopyrin-associated periodic syndrome

Clinical spectrum of cryopyrin-associated periodic syndrome

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Figure 1: Pedigree chart for the presence of early-onset sensorineural...
Figure 2: Clinical spectrum of cryopyrin-associated periodic syndrome
A Case of Hearing Impairment with Renal Dysfunction
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  • Jan 2021
Hearing impairment in a patient with renal failure is an important clue towards etiologic diagnosis of kidney disease. Variety of hereditary diseases, developmental defects, and toxins involve these two organs. However, additional retinopathy is seen in quite a few diseases which include Alport's syndrome and Muckle–Wells syndrome (MWS). We are rep...
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... is a part of continuum of diseases with CAPS which include familial cold-induced autoinflammatory syndrome and neonatal-onset multisystem inflammatory disease [ Figure 2]. CAPS is found predominantly in Caucasian population. ...

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AA Amyloidosis complicating cryopyrin-associated periodic syndrome: a study on 86 cases including 23 French patients and systematic review
Article
  • Mar 2022
  • Br J Rheumatol
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 interleukin-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 pa-tients (41%), none of whom having ever received interleukin-1 inhibitors. Twenty-eight patients (33%) received interleukin-1 inhibitors, with a > 50% decrease in proteinuria in 89% of cases. Conclusion AA amyloidosis can occur in nearly all CAPS subtypes. Interleukin-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.
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