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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