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Table 2 Demographic and disease characteristics of study sample

From: Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being

Patients with hATTR Amyloidosis (N = 14)
  Mean (SD) [Range]
Age (years) 61.5 (14.5) [20–76]
Age at First hATTR Amyloidosis Symptom (years) 50.36 (15.13) [14–73]
Age at Diagnosis (years) 56.29 (16.55) [17–75]
Time Since Diagnosis (years) 5.21 (5.63) [1–21]
  N (%)
Sex
 Male 8 (57%)
 Female 6 (43%)
Race
 Caucasian/white 13 (93%)
 Asian 1 (7%)
Education
 High school 1 (7%)
 Some college but no degree 1 (7%)
 Associate’s degree or technical certificate 1 (7%)
 Bachelor’s degree 7 (50%)
 Graduate degree 4 (29%)
Marital Status
 Married 10 (71%)
 Divorced 3 (21%)
 Never married 1 (7%)
Region of Residence
 Northeast US 5 (36%)
 South US 5 (36%)
 West US 2 (14%)
 Midwest US 1 (7%)
 Canada 1 (7%)
hATTR Amyloidosis Type
 hATTR amyloidosis with symptoms of both PN and CM 8 (57%)
 hATTR amyloidosis with symptoms of PN only 6 (43%)
Genetic Variant of hATTR Amyloidosis
 V30M 5 (36%)
 T60A 3 (21%)
 Othera 4 (29%)
 Unsure 2 (14%)
Age at Symptom Onset
 Early onset (< 50 years of age) 7 (50%)
 Late onset (≥50 years of age) 7 (50%)
Stage of Ambulatory Disability
 Stage 1: Able to walk unassisted 8 (57%)
 Stage 2: Requires assistance with walking (e.g., walker, cane) 3 (21%)
 Stage 3: Unable to walk (e.g., wheelchair, scooter) 3 (21%)
Impacted Organs/Systemsb
 Nervous 14 (100%)
 Cardiac 8 (57%)
 Gastrointestinal 8 (57%)
 Ocular 4 (29%)
  1. Abbreviations: CM Cardiomyopathy, PN Polyneuropathy, SD Standard deviation, US United States
  2. aOther genetic variants reported by patients: A97S (n = 1), Y114H (n = 1), F64L (n = 1), E54G (n = 1)
  3. bBecause patients could report multiple organ/system involvement, frequency sums to > 100%