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Table 4 Diagnostic testing during the 5 years prior to ATTRv amyloidosis diagnosis

From: The patient journey toward a diagnosis of hereditary transthyretin (ATTRv) amyloidosis

  Newly diagnosed ATTRv Amyloidosis Patients N = 141 Matched controlsa N = 423 p value Newly diagnosed ATTRv Amyloidosis Patients N = 141 Matched controlsa N = 423 p value Newly diagnosed ATTRv Amyloidosis Patients N = 141 Matched controlsa N = 423 p value
Pyrophosphate imaging (PYP) Cardiac magnetic resonance imaging (MRI) Echocardiogram
N (%) 3 (2.1) 0 (0.0) 0.003 10 (7.1) 1 (0.2) < 0.001 80 (56.7) 114 (27.0) < 0.001
First evidence occurred 138 (97.9) 423 (100.0) 0.003 131 (92.9) 422 (99.8) < 0.001 61 (43.3) 309 (73.0) < 0.001
No evidence
 Pre Y1 3 (2.1) 0 (0)   6 (4.3) 1 (0.2)   12 (8.5) 19 (4.5)  
 Pre Y2 0 (0) 0 (0)   1 (0.7) 0 (0)   11 (7.8) 14 (3.3)  
 Pre Y3 0 (0) 0 (0)   1 (0.7) 0 (0)   11 (7.8) 19 (4.5)  
 Pre Y4 0 (0) 0 (0)   2 (1.4) 0 (0)   19 (13.5) 21 (5.0)  
 Pre Y5 0 (0) 0 (0)   0 (0) 0 (0)   27 (19.1) 41 (9.7)  
  Blood/urine testing p value Tissue biopsy or genetic testingb p value    
N (%) 49 (34.8) 40 (9.5) < 0.001 49 (34.8) 88 (20.8) < 0.001    
First evidence occurred    < 0.001    0.003    
No evidence 92 (65.2) 383 (90.5)   92 (65.2) 335 (79.2)     
 Pre Y1 14 (9.9) 13 (3.1)   11 (7.8) 14 (3.3)     
 Pre Y2 7 (5.0) 6 (1.4)   7 (5.0) 12 (2.8)     
 Pre Y3 10 (7.1) 7 (1.7)   13 (9.2) 14 (3.3)     
 Pre Y4 10 (7.1) 7 (1.7)   10 (7.1) 21 (5.0)     
 Pre Y5 8 (5.7) 7 (1.7)   8 (5.7) 27 (6.4)     
  1. ATTRv Hereditary transthyretin
  2. aMatched with age, gender, and region
  3. bTissue biopsy tests limited to peripheral, cardiac, salivary, rectal, fat pad areas of the body and nerves, and genetic tests include those used to analyze nucleic acid for abnormalities that may be indicative of a variety of disorders