Journal of the neurological sciences · 2026
Prevalence and attribution of polyneuropathy in p.V142I (V122I) hereditary transthyretin amyloidosis.
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Dvorak John E, Khella Sami, Drachman Brian, Row Rebecca, Pieretti Janice, Mathelier Hansie, Karam Chafic
Аннотация
BACKGROUND: The p.V142I (V122I) transthyretin variant (TTRv) is the most common amyloidogenic TTRv in the United States, particularly among Black people. While p.V142I ATTRv is primarily associated with cardiac amyloidosis, the prevalence and attribution of polyneuropathy (PN) to amyloidosis in individuals with this variant are poorly defined.
OBJECTIVE: To determine the prevalence of PN in individuals with the p.V142I TTRv, evaluate how often PN is attributable to ATTRv amyloidosis rather than alternative comorbid conditions, and compare p.V142I TTRv to non-p.V142I TTRv individuals.
METHODS: We conducted a retrospective review of patients with TTRv evaluated at the Penn Amyloidosis Center of the University of Pennsylvania in Philadelphia between 2021 and 2025. Patients who underwent a comprehensive neurologic and cardiac assessment were selected. PN was classified as possible, probable, or definite based on clinical symptoms, examination, and diagnostic testing. PN attribution to amyloidosis was determined using clinical judgment and categorized as unlikely, possible, probable, or definite.
RESULTS: Of 153 patients with TTRv who underwent a comprehensive neurologic and cardiac assessment, 82 carried the p.V142I variant. Among these, 41% were found to have PN; 13% had PN possibly or probably attributable to amyloidosis. In the subgroup with confirmed cardiac amyloidosis, 35% had PN possibly or probably attributable to amyloidosis. Comorbid conditions such as diabetes, chronic kidney disease, alcohol use, and neurotoxic medication exposure were common, and often provided alternative explanations for the PN.
CONCLUSIONS: Although PN is present in over 40% of individuals with the p.V142I TTRv, it is often unrelated to amyloidosis. Accurate attribution is critical to avoid misdiagnosis and overtreatment. In populations with high burdens of comorbidities and health care disparity, cautious interpretation and selective use of confirmatory testing are essential for appropriate management.
OBJECTIVE: To determine the prevalence of PN in individuals with the p.V142I TTRv, evaluate how often PN is attributable to ATTRv amyloidosis rather than alternative comorbid conditions, and compare p.V142I TTRv to non-p.V142I TTRv individuals.
METHODS: We conducted a retrospective review of patients with TTRv evaluated at the Penn Amyloidosis Center of the University of Pennsylvania in Philadelphia between 2021 and 2025. Patients who underwent a comprehensive neurologic and cardiac assessment were selected. PN was classified as possible, probable, or definite based on clinical symptoms, examination, and diagnostic testing. PN attribution to amyloidosis was determined using clinical judgment and categorized as unlikely, possible, probable, or definite.
RESULTS: Of 153 patients with TTRv who underwent a comprehensive neurologic and cardiac assessment, 82 carried the p.V142I variant. Among these, 41% were found to have PN; 13% had PN possibly or probably attributable to amyloidosis. In the subgroup with confirmed cardiac amyloidosis, 35% had PN possibly or probably attributable to amyloidosis. Comorbid conditions such as diabetes, chronic kidney disease, alcohol use, and neurotoxic medication exposure were common, and often provided alternative explanations for the PN.
CONCLUSIONS: Although PN is present in over 40% of individuals with the p.V142I TTRv, it is often unrelated to amyloidosis. Accurate attribution is critical to avoid misdiagnosis and overtreatment. In populations with high burdens of comorbidities and health care disparity, cautious interpretation and selective use of confirmatory testing are essential for appropriate management.