Abstract：
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.
Retrospective study in France associated with a systematic literature review.
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.
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.
Retrospective study in France associated with a systematic literature review.
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.
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.
摘要：
Cryopyrin相关周期性综合征（CAPS）是一种罕见但可治疗的遗传性自身炎症，包括家族性寒冷自身炎症综合征（FCAS），Muckle-Wells综合征（MWS）和慢性婴儿神经皮肤关节综合征（CINCA）。我们的目的是描述CAPSAA淀粉样变性（AA-CAPS）相关的主要特征以及IL-1抑制剂在该适应症中的功效。
法国的回顾性研究与系统文献综述相关。
确定了86例患者：23例新的法国病例和63例文献，诊断为淀粉样变性的中位年龄为39岁。CAPS亚型为MWS(n=62)，FCAS（n=9），MWS和FCAS之间的前沿形式(n=12)以及CINCA和MWS之间的前沿形式(n=3)。NLRP3已在60例患者（70％）中进行了测序，最常见的突变是R260W（60％）。三名AA-CAPS患者显示体细胞NLRP3突变。35例患者（41%）死亡，他们都没有接受过IL-1抑制剂。28名患者（33%）接受了IL-1抑制剂，在89%的病例中，蛋白尿减少>50%。
AA淀粉样变性可以发生在几乎所有的CAPS亚型中。IL-1抑制剂是有效的，强调早期诊断CAPS的必要性，以便在AA-CAPS患者中尽快开始这种治疗。
法国的回顾性研究与系统文献综述相关。
确定了86例患者：23例新的法国病例和63例文献，诊断为淀粉样变性的中位年龄为39岁。CAPS亚型为MWS(n=62)，FCAS（n=9），MWS和FCAS之间的前沿形式(n=12)以及CINCA和MWS之间的前沿形式(n=3)。NLRP3已在60例患者（70％）中进行了测序，最常见的突变是R260W（60％）。三名AA-CAPS患者显示体细胞NLRP3突变。35例患者（41%）死亡，他们都没有接受过IL-1抑制剂。28名患者（33%）接受了IL-1抑制剂，在89%的病例中，蛋白尿减少>50%。
AA淀粉样变性可以发生在几乎所有的CAPS亚型中。IL-1抑制剂是有效的，强调早期诊断CAPS的必要性，以便在AA-CAPS患者中尽快开始这种治疗。
