Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervation
| Autor: | Fiammetta Vanoli, Eleonora Galosi, Mario Sabatelli, Giuseppe Di Pietro, Laura Fionda, Andrea Truini, Giovanni Antonini, Matteo Garibaldi, Luca Leonardi, Marco Salvetti, Antonio Lauletta, Stefania Morino, Marco Luigetti, Girolamo Alfieri, Alessandra Fasolino |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
medicine.medical_specialty Adolescent Biopsy Small Fiber Neuropathy Sural nerve Nerve fiber Dermatology Gastroenterology Polyneuropathies Young Adult 03 medical and health sciences 0302 clinical medicine ATTRv Internal medicine Skin biopsy medicine Humans 030212 general & internal medicine Child Retrospective Studies Skin Denervation medicine.diagnostic_test business.industry ATTRv Polyneuropathy Small fiber neuropathy Skin biopsy QST General Medicine medicine.disease QST body regions Psychiatry and Mental health medicine.anatomical_structure Neuropathic pain Neurology (clinical) Polyneuropathy Small fiber neuropathy Age of onset business Asymptomatic carrier Polyneuropathy 030217 neurology & neurosurgery |
| Zdroj: | Neurological Sciences. 43:1359-1364 |
| ISSN: | 1590-3478 1590-1874 |
| DOI: | 10.1007/s10072-021-05434-5 |
| Popis: | Study of intraepidermal nerve fiber density (IENFD) by skin biopsy represents a promising tool in the evaluation of patients with ATTRv polyneuropathy (ATTRv-PN). Herein, we retrospectively analyze intraepidermal innervation and quantitative sensory test (QST) data from an Italian cohort of Italian ATTRv-PN patients and asymptomatic carriers aimed to provide insights into early nerve pathological and functional changes in this disease. IENFD and QST data of 14 ATTRv-PN patients and 14 asymptomatic carriers were retrospectively analyzed together with clinical and paraclinical data such as disease stage and severity, neuropathic pain scales, and sural SNAP amplitude. Given an estimated time to the predicted age of onset of symptomatic disease of 20.27 + / − 7.9 years, small nerve fiber loss seems to be unexpectedly early in carriers. Moreover, carriers showed skin denervation at the proximal (thigh) site, suggesting a non-length-dependent neuropathic process. IENFD at ankle correlated with disease severity and other paraclinical variables such as sural nerve potential amplitude and QST parameters. Patients at earlier stages of the disease did not show significant differences in ankle IENFD compared with asymptomatic carriers, but significant differences in terms of QST parameters, small fiber neuropathy symptoms, and neuropathic pain. Skin biopsy can disclose an early non-length-dependent small fiber loss in ATTRv-PN and, together with QST, could provide a useful insight disease onset and progression. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink