Journal of the peripheral nervous system : JPNS · 2025
Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.
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O'Donnell Luke F, Zhang Victor, Carganillo Roy, Rossor Alexander M, Laura Matilde, Skorupinska Mariola, Gilbertson Janet A, Rowczenio Dorota, Razvi Yousuf, Gillmore Julian D, Reilly Mary M
Аннотация
OBJECTIVE: Gene silencing therapy for ATTRv has revolutionised treatment. In minimally symptomatic, early neuropathic disease, skin biopsy can aid in the diagnosis of ATTRv-PN, assessing both amyloid deposition and IENFD. Our aim was to study the value of performing skin biopsies in the diagnosis of ATTRv-PN in UK patients and to assess the influence of this on accessing gene silencing treatment.
METHODS: Seventy-three patients had skin biopsies performed between July 2021 and October 2023. These were stained for amyloid, typed by immunohistochemistry, and analysed for IENFD.
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. 40% of patients had abnormal IENFD, 33% had positive amyloid and 16% had both. This allowed 33% of patients to start gene silencing therapy, 75% of whom had a preceding amyloid cardiomyopathy diagnosed.
CONCLUSIONS: Skin biopsy is a useful, minimally invasive method for diagnosing ATTRv-PN. It allowed a substantial number of patients to commence gene silencing treatment. 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.
METHODS: Seventy-three patients had skin biopsies performed between July 2021 and October 2023. These were stained for amyloid, typed by immunohistochemistry, and analysed for IENFD.
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. 40% of patients had abnormal IENFD, 33% had positive amyloid and 16% had both. This allowed 33% of patients to start gene silencing therapy, 75% of whom had a preceding amyloid cardiomyopathy diagnosed.
CONCLUSIONS: Skin biopsy is a useful, minimally invasive method for diagnosing ATTRv-PN. It allowed a substantial number of patients to commence gene silencing treatment. 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.