Familiar Amyloid Polyneuropathy – a Case Report

Czech version

Authors: T. Pika ¹; P. Látalová ²; H. Hůlková ^3,4; H. Vlášková ³; P. Otruba ⁵; V. Mejzlík ⁶; V. Ščudla ^1,7
Authors‘ workplace: Hemato-onkologická klinika LF UP a FN Olomouc ¹; Ústav klinické a molekulární patologie, LF UP v Olomouci ²; Ústav dědičných metabolických poruch, 1. LF UK a VFN v Praze ³; Ústav patologie, 1. LF UK a VFN v Praze ⁴; Neurologická klinika LF UP a FN Olomouc ⁵; Centrum kardiovaskulární a transplantační chirurgie, Brno ⁶; III. interní klinika – nefrologická, revmatologická a endokrinologická LF UP a FN Olomouc ⁷
Published in: Cesk Slov Neurol N 2015; 78/111(6): 710-714
Category: Case Report
doi: https://doi.org/10.14735/amcsnn2015710

Předkládáme popis případu nemocného s familiární formou amyloidové polyneuropatie. Mladý nemocný s postupně progredujícími projevy léze periferních nervů byl zprvu diagnostikován a léčen pro chronickou zánětlivou demyelinizační polyneuropatii. Pro následné komplikace bylo provedeno endoskopické vyšetření zažívacího traktu s bioptickým průkazem amyloidových depozit. Následné komplexní vyšetření potvrdilo hereditární formu transtyretinové amyloidové polyneuropatie na podkladě raritní mutace v genu pro transtyretin na pozici Val50Ala.

Overview

We present a case of a patient with familial amyloid polyneuropathy. A young patient with gradually progressing symptoms of peripheral neuropathy was initially diagnosed and treated for chronic inflammatory demyelinating polyneuropathy. Subsequent complications resulted in endoscopic examination of the digestive tract. Biopsy showed evidence of amyloid deposits. Subsequent comprehensive examination confirmed hereditary form of amyloid polyneuropathy on the basis of a rare mutation in the transthyretin gene in Val50Ala position. Family history revealed that the mother of the patient was treated for amyloidosis with neuropathic symptoms. Treatment with tafamidis meglumine prevented further disease progression, and was followed by orthotopic liver transplantation. At present, clinical condition of the patient gradually improves with regression of motor and sensory neuropathic symptoms.

Key words:
familial amyloid polyneuropathy – transthyretin – tafamidis meglumine

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

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