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Table 3 Signs and Symptoms Associated with hATTR Amyloidosis

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

Symptoma Patientb
01 02 03 04 05 06 07 08 09 10 11 12 13 14 Total
Pain    12
Numbness    12
Fatigue, Lethargy    12
Weakness      10
Gastrointestinal dysfunction        8
Cognitive dysfunction        8
Paresthesia        8
Cardiac dysfunction        8
Loss of motor function         7
Loss of balance          6
Carpal tunnel syndrome          6
Dizziness           5
Genitourinary dysfunction            4
Ocular issues            4
Difficulty breathing            4
Swelling             3
Weight loss or difficulty gaining             3
Hot sensations              2
Difficulty swallowing, Choking              2
Total 11 3 13 9 6 12 5 10 9 10 7 10 5 14  
  1. aFourteen symptoms were mentioned by only one patient each: altered taste, back spasms, body temperature dysregulation, elevated adrenaline, heat intolerance, inability to get pregnant, insomnia, migraine, muscle tightness, nausea, perspiration, sensitivity to weather, blood pooling, and weakened voice
  2. bGenetic variants reported by patients: V30M (patient #s 01, 02, 03, 05, and 07), T60A (#s 11, 12, 14), A97S (#04), Y114H (#08), F64L (#09), E54G (#10), and unsure (#s 06 and 13)