Neurol. praxi. 2020;21(4):307-312 | DOI: 10.36290/neu.2020.089

Cryptogenic Neuropathy - a retrospective analysis - Transthyretin-related familial amyloid polyneuropathy - differential diagnostic pathway

MUDr. Jana Junkerová, MUDr. Eva Kovalová

Centrum pro diagnostiku a léčbu nervosvalových onemocnění, Neurologická klinika FN Ostrava, Lékařská fakulta OU, Ostrava

We retrospectively evaluated 2 years of our diagnostic efforts. The subjects of interest were 25 patients with acutely or subacutely progressing polyneuropathy, with the etiology remaining unclear in 22of cases even after the use of all available diagnostic methods. Transthyretin familial amyloid polyneuropathy, TTR-FAP, certainly belongs to the considerations of etiopathogenesis with a rare occurrence. Although we have not yet detected this diagnosis, we present a brief outline of the disease, reflections on the occurrence of this unit in our region and the possibilities of its diagnosis. We offer comparisons in the success of revealing the complex/unclear etiology of polyneuropathy and encourage a concerted effort to pay attention to systemic manifestations and find, for example, TTR-FAP.

Keywords: idiopathic, cryptogenic polyneuropathy, neuropathic syndrome with systemic manifestations, transthyretin amyloid polyneuropathy.

Received: June 16, 2020; Revised: August 21, 2020; Accepted: August 21, 2020; Prepublished online: August 21, 2020; Published: September 8, 2020  Show citation