Mitochondrial hepatopathy in adults: a case series and review of the literature.

Abstract:

AIM:Mitochondrial diseases affect about 1/5000-1/10000 in the population. Twenty percent of patients with mitochondrial disease show liver involvement. In contrast to current belief among most internists, these diseases do not only present in childhood. METHODS:We present four cases of adults (three with Alpers-Huttenlocher syndrome and one with mitochondrial neurogastrointestinal encephalomyopathy), diagnosed between 2005 and 2010, in our university referral center. RESULT:We focus on the broad clinical spectrum of liver involvement in mitochondrial diseases and their diagnosis. Biochemical investigations are often found to be inconclusive, and genetic confirmation cannot always be obtained, leaving many patients without a final diagnosis. Evidence-based causal therapy is unavailable for most mitochondrial diseases and liver transplantation for this indication remains a controversial issue. CONCLUSION:For clinicians, it is important to consider the possibility of an underlying mitochondrial disorder when there is systemic involvement (more than one organ affected), a suggestive family history, or an elevated level of lactic acid in the blood or cerebrospinal fluid.

authors

Cloots K,Verbeek J,Orlent H,Meersseman W,Cassiman D

doi

10.1097/MEG.0b013e32835ee629

subject

Has Abstract

pub_date

2013-08-01 00:00:00

pages

892-8

issue

8

eissn

0954-691X

issn

1473-5687

journal_volume

25

pub_type

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