Hepatic ultrastructure on Wilson's disease (WD) suspicious patients

Abstract

Introduction: WD is an autonomic recessive disorder caused by mutations in the ATP7Bgene, characterized by dramatic of hepatic accummulations of hepatic copper, with subsequent hepatic and neurologic abnormalities. Electron mycroscopy has been decisive for Wilson's disease precocious diagnosis. Three stages have been morphologically identified depending on mitochondrial and lisosomal damage. Wilson's disease early diagnosis is very important because it enables the application of an adequate therapy and avoids fatal outcomes. Objective: To study the fine structure of WD hepatic tissue in order to improve the morfologic criteria for early diagnosis. Materials and methods: Samples of hepatic biopsies from 18 adult patients (males and females) clinically suspicious of WD were studied. Biopsies were obtained by laparoscopy and divided into three fragments: for optical and electron microscopy and for tissue determination of copper. Results: In all cases the liver copper content was increased and WD was confirmed clinically. At optical microscope 10 out of the 18 cases showed morphological alterations compatible with WD; 6 of them showed ultrastructural features typical of WD. The other 8 (of the 18) were diagnosed as normal under the optical microscope, but 6 of them presented outstanding mitochondrial alterations, among them the three typical kinds of intramitochondrial inclusions. The latter was determinant for the early diagnosis of WD. Conclusions: Electron microscopy is highly valuable for Wilson's disease early diagnosis, especially for those patients whose biopsies do not show histologic alterations visible at the optical microscope.