Abstrakt

Lipodystrofie są heterogenną grupą chorób tkanki tłuszczowej z jej częściowym lub całkowitym zanikiem. Zwykle wyróżnia się cztery główne grupy lipodystrofii klasycznych: a) wrodzoną uogólnioną; b) nabytą uogólnioną; c) wrodzoną częściową i d) nabytą częściową. W lipodystrofii wrodzonej często dochodzi do pierwotnych zaburzeń adipogenezy i nieprawidłowego różnicowania adipocytów. Powoduje to powstawanie komórek tłuszczowych o funkcji termogenicznej. Lipodystrofia może być wynikiem nieprawidłowej syntezy triacylogliceroli i fosfolipidów, składników kropli lipidowych adipocytów, budujących krople lipidowe, a także nieprawidłowego uwalniania kwasów tłuszczowych czy też ich wewnątrzkomórkowego transportu. Lipodystrofia może być także spowodowana obniżeniem odporności tkanki tłuszczowej na uszkodzenie mechaniczne albo nieprawidłową budową i działaniem cytoszkieletu i blaszki jądrowej. Brak tkanki tłuszczowej prowadzi często do wzrostu poziomu triacylogliceroli w surowicy i ektopowego odkładania się lipidów w różnych narządach; wzrostu stężenia cholesterolu całkowitego w surowicy; obniżenia stężenia HDL-cholesterolu w surowicy. Ektopowe odkładanie się lipidów jest szczególnie nasilone w wątrobie. Może doprowadzić do jej stłuszczenia, hepatomegalii, a czasami do marskości. Zaburzenia zależą od masy utraconej tkanki tłuszczowej i mogą się pojawiać we wczesnym okresie życia, zwłaszcza u pacjentów z lipodystrofią uogólnioną. Patologiami towarzyszącymi lipodystrofii są zwykle insulinooporność i cukrzyca typu 2. W ostatnich latach opisano wiele nowych typów lipodystrofii występujących w Polsce i na świecie. Doskonalenie metod diagnostycznych w genetyce medycznej umożliwia dokładne określenie genotypu choroby i poprawne zdiagnozowanie pacjentów cierpiących na lipodystrofię. Istnieje więc potrzeba przybliżenia molekularnych podstaw tych zespołów chorobowych klinicystom, którzy zajmują się tymi rzadkimi i bardzo rzadkimi chorobami.

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