Department of Neurology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga 15, Co. Belisario Domínguez, Sección XVI, Tlalpan, Mexico City, 14080, Mexico.
Clin Auton Res. 2019 Sep;29(Suppl 1):1-9. doi: 10.1007/s10286-019-00630-y. Epub 2019 Aug 31.
Autonomic dysfunction is a hallmark feature of hereditary ATTR amyloidosis. The aim of this study was to summarize the characteristics and natural history of autonomic dysfunction in patients with hereditary ATTR amyloidosis.
A systematic review of the natural history and clinical trials of patients with ATTR amyloidosis was performed. Alternative surrogate markers of autonomic function were analyzed to understand the prevalence and outcome of autonomic dysfunction.
Patients with early-onset disease displayed autonomic dysfunction more distinctively than those with late-onset disease. The nutritional status and some autonomic items in the quality-of-life questionnaires were used to assess the indirect progression of autonomic dysfunction in most studies. Gastrointestinal symptoms and orthostatic hypotension were resent earlier than urogenital complications. Once symptoms were present, their evolution was equivalent to the progression of the motor and sensory neuropathy impairment.
The development of autonomic dysfunction impacts morbidity, disease progression, and mortality in patients with hereditary ATTR amyloidosis.
自主神经功能障碍是遗传性转甲状腺素淀粉样变性的标志性特征。本研究旨在总结遗传性转甲状腺素淀粉样变性患者自主神经功能障碍的特征和自然病程。
对转甲状腺素淀粉样变性患者的自然病史和临床试验进行了系统回顾。分析了替代自主功能的替代指标,以了解自主神经功能障碍的患病率和结局。
与晚发型疾病患者相比,早发型疾病患者的自主神经功能障碍更为明显。营养状况和生活质量问卷中的一些自主项目被用于评估大多数研究中自主神经功能障碍的间接进展。胃肠道症状和体位性低血压比泌尿生殖并发症更早出现。一旦出现症状,其演变与运动和感觉神经病损害的进展相当。
自主神经功能障碍的发展影响遗传性转甲状腺素淀粉样变性患者的发病率、疾病进展和死亡率。