Table 1

Alternative diagnosis for patients with hereditary ATTR amyloidosis and variables associated with misdiagnosis of hereditary ATTR amyloidosis

Misdiagnoses n=49 (%)
Chronic inflammatory demyelinating polyneuropathy30 (61)
Lumbar and sacral radiculopathy and lumbar canal stenosis11 (22)
Paraproteinaemic peripheral neuropathy3 (6)
AL amyloidosis3 (6)
Wild-type ATTR amyloidosis1 (2)
Toxic peripheral neuropathy4 (8)
Vasculitic peripheral neuropathy1 (2)
Motor neuron disease1 (2)
Fibromyalgia2 (4)
Other diagnosis2 (4)
Multiple misdiagnosis9 (18)
Variables associated with misdiagnosis of ATTR amyloidosis Misdiagnosed patients (n=49) (%) Not misdiagnosed patients (n=101) (%) OR (95% CI)*,
p value 		OR (95% CI)†, p value
Late onset (after 50 years)46 (94)74 (73)5.59 (1.60 to 19.49), p=0.0073.89 (1.02 to 14.81), p=0.046
Absence of family history28 (58)36 (36)2.4 (1.19 to 4.83), p=0.012.19 (1.01 to 4.89), p=0.049
Male gender42 (86)69 (68)2.78 (1.12 to 6.86), p=0.022.67 (1.02 to 6.98), p=0.044
Absence of heart involvement (NYHA<2)31 (63)46 (46)2.05 (1.02 to 4.14), p=0.042.60 (1.19 to 5.66), p=0.016
Negative tissue biopsy14/36 (39)8/40 (20)2.5 (0.9 to 7), p=0.08-

  • *Univariate logistic regression.

  • †Variables significantly associated with misdiagnosis in the univariate model were tested in a multivariate logistic regression model.

  • NYHA, New York Heart Association.