Abstract
BackgroundThe 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.MethodsWe retrospectively reviewed the characteristics of genetically confirmed ATTR Ala97Ser patients at a tertiary referral medical center.ResultsEight 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%).ConclusionsThis 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.
Highlights
The disease course and early signs specific to Hereditary transthyretin related amyloidosis (ATTR) Ala97Ser, the most common endemic mutation in Taiwan, have not been well described
We reviewed other data, including the chief complaints, family history, clinics visited before the neurology referral, biopsy studies if available, reports of electrophysiological tests, electrocardiography (ECG), echocardiography findings, and major events including the placement of a permanent pacemaker and cardiopulmonary-cerebral resuscitation (CPCR)
GI symptoms were common and included chronic constipation, diarrhea or constipation alternating with diarrhea [5, 7]
Summary
The disease course and early signs specific to ATTR Ala97Ser, the most common endemic mutation in Taiwan, have not been well described. Hereditary transthyretin-related amyloidosis (ATTR) is the most common form of familial systemic amyloidosis and is caused by dominantly inherited transthyretin (TTR) mutations [1,2,3]. ATTR is a rare but widely distributed disease with a clinical picture that varies in persons from different geographic, ethnic or genetic backgrounds, even among those with the same mutation or within the same family [4, 5]. Ala97Ser, the most common endemic mutation in Taiwan, is much less prevalent in the rest of the world. The early signs/symptoms specific to ATTR Ala97Ser and the progression of ATTR Ala97Ser over time have not been described previously
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