1. hATTR pathology: Nerve biopsy results from Italian referral centers
- Author
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Luigetti, Marco, Romozzi, Marina, Bisogni, G., Cardellini, D., Cavallaro, T., Di Paolantonio, Andrea, Fabrizi, G. M., Fenu, S., Gentile, L., Grandis, M., Marucci, G., Massucco, S., Mazzeo, A., Pareyson, D., Romano, Angela, Russo, M., Schenone, A., Tagliapietra, M., Tozza, S., Vita, G., Sabatelli, Mario, Luigetti M. (ORCID:0000-0001-7539-505X), Romozzi M., Di Paolantonio A., Romano A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti, Marco, Romozzi, Marina, Bisogni, G., Cardellini, D., Cavallaro, T., Di Paolantonio, Andrea, Fabrizi, G. M., Fenu, S., Gentile, L., Grandis, M., Marucci, G., Massucco, S., Mazzeo, A., Pareyson, D., Romano, Angela, Russo, M., Schenone, A., Tagliapietra, M., Tozza, S., Vita, G., Sabatelli, Mario, Luigetti M. (ORCID:0000-0001-7539-505X), Romozzi M., Di Paolantonio A., Romano A., and Sabatelli M. (ORCID:0000-0001-6635-4985)
- Abstract
ObjectivePathological evidence of amyloid on nerve biopsy has been the gold standard for diagnosis in hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN) for a long time. In this article, we reviewed the pathological findings of a large series of sural nerve biopsies from a cohort of hATTR-PN patients, collected by different Italian referral centers. Patients and Methods: We reviewed clinical and pathological data from hATTR-PN patients, diagnosed and followed in five Italian referral centers for peripheral neuropathies. Diagnosis was formulated after a positive genetic test for transthyretin (TTR) mutations. Sural nerve biopsy was performed according to standard protocols. Results: Sixty-nine sural nerve biopsies from hATTR-PN patients were examined. Congo red positive deposits were found in 73% of cases. Only the Phe64Leu mutation failed to show amyloid deposits in a high percentage of biopsies (54%), as already described. Unusual pathological findings, such as myelin abnormalities or inflammatory infiltrates, were detected in occasional cases. Conclusions: Even if no longer indicated to confirm hATTR-PN clinical suspicion, nerve biopsy remains, in expert hands, a rapid and inexpensive tool to detect amyloid deposition. In Italy, clinicians should be aware that a negative biopsy does not exclude hATTR-PN, particularly for Phe64Leu, one of the most frequent mutations in this country.
- Published
- 2020