Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.

Cohort studyJournal of the peripheral nervous system : JPNS· Sep 2025

Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.

Luke F O'Donnell, Victor Zhang, Roy Carganillo … Mary M Reilly

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DermatopathologyCohort studyDiagnosisQ1IF 2.8

Skin biopsy allowed a third of ATTRv patients to start gene silencing therapy

Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.

Luke F O'Donnell … Mary M Reilly

Journal of the peripheral nervous system · Sep 2025 · Q1 in General Medicine

Purpose

Gene silencing therapy for ATTRv has revolutionised treatment.

Methods

Seventy-three patients had skin biopsies performed between July 2021 and October 2023.

Results

33%

biopsy findings let a third of patients start gene silencing therapy

More results

The Thr60Ala (30%), Val122Ile (23%) and Val30Met (22%) variants represented the largest number of cases.

Normal/equivocal neurophysiology was demonstrated in 78% of cases.

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Conclusion · 1 of 2

Skin biopsy is a useful, minimally invasive method for diagnosing ATTRv-PN. It allowed a substantial number of patients to commence gene silencing treatment.

Conclusion · 2 of 2

As Thr60Ala and Val122Ile are the commonest TTR variants in the UK and patients often present with cardiomyopathy, early diagnosis of ATTRv-PN is critical for treatment decisions.

Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.

Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.

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