Journal Article

Skin biopsy as a diagnostic tool for hereditary ATTR amyloid neuropathy in the UK

Mariola, Skorupinska, Dorota, Rowczenio, Mary M, Reilly, Roy, Carganillo, Matilde, Laura, Alexander, Rossor, Luke, O’Donnell, Julian D, Gillmore, Janet A, Gilbertson

2023

Overview

BackgroundIn minimally symptomatic early neuropathic disease where neurophysiology is normal, skin amyloid deposits have been demonstrated to be a marker of hereditary transthyretin (ATTRv) amyloid neuropathy with intraepidermal nerve fibre density (IENFD), a marker of disease progression.AimsTo study the utility of skin biopsy in the diagnosis of UK ATTRv patients and to assess its influence on accessing gene silencing therapy.Methods53 patients had skin biopsies performed between July 2021 and October 2022. These were stained for amyloid (typing by immunohistochemistry) and analysed for IENFD.ResultsA total of 59 skin biopsies were performed since July 2021. Neurophysiology was normal in 62% of cases. From available results, 48% of cases had an abnormal IENFD result, 37% had positive amyloid staining and 24% had both. These results allowed 27% of these patients to start gene silencing therapy.ConclusionSkin biopsy is a useful method for detecting amyloid deposits and small nerve fibre loss. Crucially, It allowed a substantial number of patients to start gene silencing therapy who would otherwise not have been eligible. As T60A and V122I are the commonest TTR variants in the UK, with patients often presentingwith cardiomyopathy, earlydiagnosisofamyloid neuropathy is imperative for therapy decisions.

• Publisher: BMJ Publishing Group Ltd,BMJ Publishing Group LTD
• Subject: Association of British Neurologists: Annual Meeting Abstracts 2023 / Biopsy / Medical diagnosis / Neurophysiology