Table 2 Core features of the clinical and laboratory manifestations of patients with ATTR Ala97Ser mutation
From: Phenotypic expressions of hereditary Transthyretin Ala97Ser related Amyloidosis (ATTR) in Taiwanese
(n = number of patients, males: females) | This study (n = 8, 5:3) | Liu et al., 2008 (n = 5, 3:2) | Chao et al., 2015 (n = 28, 25:3) | |
|---|---|---|---|---|
Core features | 1. Late onset age (years, mean ± SD, median, range) | 61.7 ± 5.5, 60, 55–69 | 50.4 ± 5.6,49, 46–60 | 59.9 ± 6.0,59, 48–71 |
2. Progressive polyneuropathya | 7/7 (100.0%) | 5/5 (100.0%) | 28/28 (100.0%) | |
3. Progressive autonomic dysfunctionb | 7/7 (100.0%) | 5/5 (100.0%) | 22/28 (78.6%) | |
4. Family members with similar symptoms or documented ATTR | 6/8 (75.0%) | 5/5 (100.0%) | NA | |
Supportive laboratory findings | 1. Progressive axonal predominant, length-dependent, sensorimotor polyneuropathy on electrophysiology | 7/7 (100.0%) | 5/5 (100.0%) | 28/28 (100.0%) |
2. Ventricular wall thickening in association with pericardial effusion on echocardiography | 7/7 (100.0%) | NA | NA | |
3. LVH in association with low to normal QRS voltage on electrocardiography | 7/7 (100.0%) | NA | NA | |
4. Granular sparkling appearance of the ventricular myocardium on echocardiography | 4/7 (57.1%) | NA | NA | |
5. Hypertrophic cardiomyopathy in the absence of other causesc | 7/7 (100.0%) | 3/5 (60.0%) | NA | |
6. Conduction abnormalities on ECG | 5/7 (71.4%) | 3/5 (60.0%) | NA | |
7. Amyloid deposition on tissue biopsy | 2/5 (40.0%) | 3/5 (60.0%) | > 1/3 (> 33.3%) |