Phenotypic expressions of hereditary Transthyretin Ala97Ser related Amyloidosis (ATTR) in Taiwanese

BMC Neurology

Chih-Wei Wang¹  Victor Chien-Chia Wu²  Hung-Chou Kuo³  Ming-Feng Liao³  Ai-Lun Lo³  Rong-Kuo Lyu³  Long-Sun Ro³  Jung-Lung Hsu³  Hui-Ching Hsu⁴ 

[1] Department of Anatomic Pathology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine;Department of Cardiology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine;Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine;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;

关键词: Familial amyloid polyneuropathy;    Transthyretin-related amyloidosis;    Ala97Ser Mutation;   

DOI  :  10.1186/s12883-017-0957-4

来源: DOAJ

【 摘 要 】

Abstract Background 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. Methods We retrospectively reviewed the characteristics of genetically confirmed ATTR Ala97Ser patients at a tertiary referral medical center. Results 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%). Conclusions 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.

【 授权许可】

Unknown