Hereditary amyloidosis – aetiology, clinical features and treatment options

Česká verze

Authors: Z. Kufová ^1,2,3; T. Pika ⁴; T. Jelínek ¹; F. Kryukov ^1,2; R. Hájek ^1,2,3
Authors place of work: Klinika hematoonkologie, Fakultní nemocnice Ostrava ¹; Lékařská fakulta, Ostravská univerzita v Ostravě ²; Babákova myelomová skupina, Lékařská fakulta, Masarykova univerzita ³; Hemato-onkologická klinika, Lékařská fakulta Univerzity Palackého a Fakultní nemocnice Olomouc ⁴
Published in the journal: Transfuze Hematol. dnes,21, 2015, No. 4, p. 184-192.
Category: Souhrnné práce, původní práce, kazuistiky

Amyloidózy tvoří různorodou skupinu onemocnění charakterizovanou tvorbou patologického bílkovinného materiálu s následným ukládáním v tkáních a orgánech. Příčinou hereditární amyloidózy je patologická germinální mutace v genu kódujícím některý z amyloidogenních prekurzorových proteinů. Hereditární amyloidóza patří mezi onemocnění s autozomálně dominantní dědičností a značnou fenotypovou variabilitou a penetrancí.

Summary

Amyloidosis represents a heterogeneous group of diseases characterized by the deposition of pathological material of protein nature in target tissues and organs. Hereditary amyloidosis is a disease with autosomal dominant inheritance and considerable phenotypic variability and penetrance. It is caused by a germline mutation in the gene encoding amyloidogenic precursor protein. Development of hereditary amyloidosis is currently associated with mutations in the following amyloidogenic precursor proteins: transthyretin, apolipoprotein AI and AII, fibrinogen, gelsolin, lysozyme, cystatin C. Worldwide incidence of hereditary amyloidosis is highly variable with clearly visible differences between endemic areas and non-endemic areas. The incidence of hereditary amyloidosis in the Czech Republic remains unknown. As hereditary amyloidosis is a rare disease and awareness among physicians is low, diagnosis is often very difficult. Due to the hereditary nature of the disease, carefully acquired family medical history is a key from a diagnostic aspect. This review described the seven most common types of hereditary amyloidosis, their genetic background, clinical features and treatment options.

Key words:
hereditary amyloidosis, transthyretin, apolipoprotein, lysozyme, gelsolin, fibrinogen, cystatin C

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