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.
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。