BACKGROUND Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National Finnish Gelsolin Amyloidosis Registry (FIN-GAR) was founded in 2013 to collect clinical data on patients with AGel amyloidosis, including altogether approximately one third of the Finnish patients. We aim to deepen knowledge on the disease burden and life span of the patients using data from the updated FIN-GAR registry. We sent an updated questionnaire concerning the symptoms and signs, symptomatic treatments and subjective perception on disease progression to 240 members of the Finnish Amyloidosis Association (SAMY). We analyzed the lifespan of 478 patients using the relative survival (RS) framework. RESULTS The updated FIN-GAR registry includes 261 patients. Symptoms and signs corresponding to the classical triad of ophthalmological (dry eyes in 93%; corneal lattice amyloidosis in 89%), neurological (numbness, tingling and other paresthesias in 75%; facial paresis in 67%), and dermatological (drooping eyelids in 86%; cutis laxa in 84%) manifestations were highly prevalent. Cardiac arrhythmias were reported by 15% of the patients and 5% had a cardiac pacemaker installed. Proteinuria was reported by 13% and renal failure by 5% of the patients. A total of 65% of the patients had undergone a skin or soft tissue surgery, 26% carpal tunnel surgery and 24% at least unilateral cataract surgery. As regards life span, relative survival estimates exceeded 1 for males and females until the age group of 70-74 years, for which it was 0.96. CONCLUSIONS AGel amyloidosis causes a wide variety of ophthalmological, neurological, cutaneous, and oral symptoms that together with repeated surgeries cause a clinically significant disease burden. Severe renal and cardiac manifestations are rare as compared to other systemic amyloidoses, explaining in part the finding that AGel amyloidosis does not shorten the life span of the patients at least for the first 75 years.

中文翻译：

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芬兰凝溶胶蛋白淀粉样变性导致严重的疾病负担，但不影响生存：FIN-GAR II 期研究。


背景遗传性凝溶胶蛋白（AGel）淀粉样变性是一种常染色体显性遗传的系统性淀粉样变性，其表现为进行性眼科、神经科和皮肤科体征和症状的特征性三联征。芬兰国家凝溶胶蛋白淀粉样变性登记处 (FIN-GAR) 成立于 2013 年，旨在收集 AGel 淀粉样变性患者的临床数据，其中总共包括约三分之一的芬兰患者。我们的目标是利用更新后的 FIN-GAR 注册数据加深对患者疾病负担和寿命的了解。我们向芬兰淀粉样变性协会 (SAMY) 的 240 名成员发送了一份更新的调查问卷，内容涉及症状和体征、对症治疗以及对疾病进展的主观看法。我们使用相对生存 (RS) 框架分析了 478 名患者的寿命。结果 更新后的 FIN-GAR 登记包括 261 名患者。与经典三联征相对应的症状和体征包括眼科（93% 为干眼；89% 为角膜格子淀粉样变性）、神经科（75% 为麻木、刺痛和其他感觉异常；67% 为面部麻痹）和皮肤病（67% 为眼睑下垂） 86%；皮肤松弛（84%）的表现非常普遍。 15% 的患者报告有心律失常，5% 的患者安装了心脏起搏器。 13% 的患者出现蛋白尿，5% 的患者出现肾功能衰竭。共有 65% 的患者接受过皮肤或软组织手术，26% 的患者接受过腕管手术，24% 的患者至少接受过单侧白内障手术。至于寿命，男性和女性的相对生存率估计超过1，直到70-74岁年龄组为0.96。 结论 AGel 淀粉样变性引起多种眼科、神经科、皮肤和口腔症状，再加上重复手术，造成临床上显着的疾病负担。与其他系统性淀粉样变性相比，严重的肾脏和心脏症状很少见，这部分解释了 AGel 淀粉样变性至少在前 75 年不会缩短患者寿命的发现。