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Table 3 Negative biopsy cases for nine patients among ATTRv amyloidosis patients diagnosed within three years from the initial biopsy

From: Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis

  Sex Age Mut Phenotype Onset Fibrils 2nd fat Bx Other Bx Dx per
1 F 74 V30M PN, eye Late NA − CT+ CT Bx
2 M 67 V30M PN Late NA + GI+ Fat/GI Bx
3 M 72 V30M PN, CM, GI Late NA + ND Fat Bx/DPD
4 F 64 V30M PN, GI, eye Late NA ND Skin+ Skin Bx
5 M 66 V122I CM Late NA ND Heart+ Heart Bx
6 M 62 V30M PN, CM Late Type B + ND Fat Bx/DPD
7 M 58 V30M PN, CM Late NA − ND DPD
8 M 52 V30M PN, CM Late NA + ND Fat Bx/DPD
9 M 46 V30M PN, GI Early NA − GI− Clin. picture
  1. Bx, biopsy; Clin, clinical; CM, cardiomyopathy; CT, carpal tunnel; DPD, 99mTc-DPD scintigraphy; Dx, diagnosis; F, female; GI, gastrointestinal; M, male; Mut, mutation; NA, not available; ND, not done; PN, polyneuropathy; −, negative; +, positive
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172