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

作者：Cloots Kristien; Verbeek Jef; Orlent Hans; Meersseman Wouter; Cassiman David^*

来源：European Journal of Gastroenterology and Hepatology, 2013, 25(8): 892-898.

DOI：10.1097/MEG.0b013e32835ee629

• acute liver failure
• adult
• Alpers
• cirrhosis
• mitochondrial
• mitochondrial neurogastrointestinal encephalopathy
• valproate

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.

• 出版日期2013-8