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Table 3 Initial symptoms of ATTR-FAP Val30Met patients in Japan

From: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm

  Ando Y et al., 2005 [52] Ikeda S et al., 1987 [53] Koike H et al., 2002 [16] Koike H et al., 2012 [20]
  Early onseta Early onseta Late onsetb Late onsetb
Patients, n 117 45 82 59 50
Mean ± SD age of onset, years 35.3 33.4c, 34.2d 31.9 ± 7.6 62.5 ± 6.2 64.5 ± 6.5
Sensory-motor symptoms, n (%)
 Sensory disturbances in lower limbs 52 (44.4) 22 (48.9)    
 Neuropathic symptoms    47 (57.3) 48 (81.4) 40 (80.0)
 Carpal tunnel syndrome      
 Muscle weakness in lower limbs 3 (2.6) 3 (6.7)    
Autonomic and GI symptoms, n (%) 48 (41.0) 19 (42.2) 39 (48.0) 6 (10.2)  
 Autonomic symptoms 10 (8.5)     5 (10.0)
  Erectile dysfunction/impotence 5 (4.3) 4 (8.9)    
  Orthostatic hypotension/faintness/syncope 5 (4.3) 3 (6.7)    
 GI symptoms 38 (32.5)     
  Anorexia   2 (4.4)    
  Constipation   8 (17.8)    
  Diarrhea   2 (4.4)    
Weight loss, n (%)    4 (4.9) 0  
Cardiac symptoms, n (%) 5 (4.3)   0 3 (5.1) 2 (4.0)
Renal dysfunction, n (%) 5 (4.3)     
Ocular symptoms, n (%) 4 (3.4)   0 1 (1.7) 3 (6.0)
Bullous formations, n (%)   1 (2.2)    
  1. ATTR-FAP Transthyretin familial amyloid polyneuropathy, GI Gastrointestinal, SD Standard deviation, Val30Met Replacement of valine with methionine at position 30 in the TTR gene
  2. aAge <50 years at symptomatic disease onset
  3. bAge ≥50 years at symptomatic disease onset
  4. cMen, n = 23 (51.1%)
  5. dWomen, n = 22 (48.9%)