Amyloidosis Center, Boston University School of Medicine, Boston, MA, USA.
Section of Hematology and Oncology, Department of Medicine, Boston Medical Center, Boston, MA, USA.
Amyloid. 2023 Dec;30(4):357-363. doi: 10.1080/13506129.2023.2204999. Epub 2023 May 4.
Hereditary gelsolin (AGel) amyloidosis is a systemic disease that is characterised by neurologic, ophthalmologic, dermatologic, and other organ involvements. We describe the clinical features with a focus on neurological manifestations in a cohort of patients with AGel amyloidosis referred to the Amyloidosis Centre in the United States.
Fifteen patients with AGel amyloidosis were included in the study between 2005 and 2022 with the permission of the Institutional Review Board. Data were collected from the prospectively maintained clinical database, electronic medical records and telephone interviews.
Neurologic manifestations were featured in 15 patients: cranial neuropathy in 93%, peripheral and autonomic neuropathy in 57% and bilateral carpal tunnel syndrome in 73% of cases. A novel p.Y474H gelsolin variant featured a unique clinical phenotype that differed from the one associated with the most common variant of AGel amyloidosis.
We report high rates of cranial and peripheral neuropathy, carpal tunnel syndrome and autonomic dysfunction in patients with systemic AGel amyloidosis. The awareness of these features will enable earlier diagnosis and timely screening for end-organ dysfunction. The characterisation of pathophysiology will assist the development of therapeutic options in AGel amyloidosis.
遗传性凝胶蛋白（AGel）淀粉样变性是一种全身性疾病，其特征为神经、眼科、皮肤科和其他器官受累。我们描述了一组在美国淀粉样变性中心就诊的 AGel 淀粉样变性患者的临床特征，重点是神经表现。
在机构审查委员会的许可下，我们在 2005 年至 2022 年期间纳入了 15 名 AGel 淀粉样变性患者。数据来自前瞻性维护的临床数据库、电子病历和电话访谈。
15 名患者均有神经表现：颅神经病变占 93%，周围和自主神经病变占 57%，双侧腕管综合征占 73%。一种新型 p.Y474H 凝胶蛋白变体具有独特的临床表型，与最常见的 AGel 淀粉样变性变体相关的表型不同。
我们报告了系统性 AGel 淀粉样变性患者颅神经和周围神经病变、腕管综合征和自主神经功能障碍的发生率较高。对这些特征的认识将有助于更早诊断和及时筛查终末器官功能障碍。对病理生理学的描述将有助于开发 AGel 淀粉样变性的治疗选择。
