Hsu Hui-Ching, Liao Ming-Feng, Hsu Jung-Lung, Lo Ai-Lun, Kuo Hung-Chou, Lyu Rong-Kuo, Wu Victor Chien-Chia, Wang Chih-Wei, Ro Long-Sun
Department of Traditional Chinese Medicine, Division of Chinese Acupuncture and Traumatology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine, No.5, Fuxing St., Guishan Dist, Taoyuan City, 333, Taiwan, Republic of China.
Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine, No.199, Tung Hwa N. Rd., Songshan Dist, Taipei City, 105, Taiwan, Republic of China.
BMC Neurol. 2017 Sep 7;17(1):178. doi: 10.1186/s12883-017-0957-4.
The disease course and early signs specific to ATTR Ala97Ser, the most common endemic mutation in Taiwan, have not been well described. Since new medications can slow down the rate of disease progression, the early diagnosis of this heterogeneous and fatal disease becomes critical.
We retrospectively reviewed the characteristics of genetically confirmed ATTR Ala97Ser patients at a tertiary referral medical center.
Eight patients from 7 different families were enrolled (61.7 ± 5.5 years). Gastrointestinal symptoms, dyspnea or chest tightness, rather than sensory symptoms, were the initial symptoms in two patients (2/7 = 29%). Body weight loss (3/7 = 43%), muscle wasting (4/7 = 57%), or dysphagia (3/7 = 43%) were the consecutive symptoms. Orthostatic symptoms including orthostatic hypotension (7/7 = 100%), dizziness (6/7 = 86%) and syncope (5/7 = 71%) tended to develop in the late phase of the disease. Autonomic dysfunction was conspicuous. Cardiographic findings included a combination of ventricular wall thickening and pericardial effusion (7/7 = 100%), a granular sparkling appearance of the ventricular myocardium (4/7 = 57%), or conduction abnormalities (5/7 = 71%).
This study broadens the recognition of the initial signs and symptoms, including cardiographic findings and longitudinal manifestations in Taiwanese individuals with ATTR Ala97Ser mutation. These manifestations should prompt doctors to perform further studies and make an early diagnosis.
台湾最常见的地方性突变ATTR Ala97Ser的疾病进程和早期体征尚未得到充分描述。由于新药物可以减缓疾病进展速度，因此对这种异质性致命疾病的早期诊断变得至关重要。
我们回顾性分析了一家三级转诊医疗中心经基因确诊的ATTR Ala97Ser患者的特征。
纳入了来自7个不同家庭的8名患者（年龄61.7±5.5岁）。两名患者（2/7 = 29%）的初始症状为胃肠道症状、呼吸困难或胸闷，而非感觉症状。随后出现体重减轻（3/7 = 43%）、肌肉萎缩（4/7 = 57%）或吞咽困难（3/7 = 43%）。直立性症状包括直立性低血压（7/7 = 100%）、头晕（6/7 = 86%）和晕厥（5/7 = 71%）往往在疾病后期出现。自主神经功能障碍较为明显。心电图表现包括室壁增厚和心包积液同时出现（7/7 = 100%）、心室心肌呈颗粒状闪烁外观（4/7 = 57%）或传导异常（5/7 = 71%）。
本研究拓宽了对台湾携带ATTR Ala97Ser突变个体的初始体征和症状的认识，包括心电图表现和纵向表现。这些表现应促使医生进行进一步检查并做出早期诊断。
