title: Unexplained gastrointestinal symptoms: think mitochondrial disease.
abstract: Defects in mitochondrial function are increasingly recognised as central to the pathogenesis of many diseases, both inherited and acquired. Many of these mitochondrial defects arise from abnormalities in mitochondrial DNA and can result in multisystem disease, with gastrointestinal involvement common. Moreover, mitochondrial disease may present with a range of non-specific symptoms, and thus can be easily misdiagnosed, or even considered to be non-organic. We describe the clinical, histopathological and genetic findings of six patients from three families with gastrointestinal manifestations of mitochondrial disease. In two of the patients, anorexia nervosa was considered as an initial diagnosis. These cases illustrate the challenges of both diagnosing and managing mitochondrial disease and highlight two important but poorly understood aspects, the clinical and the genetic. The pathophysiology of gastrointestinal involvement in mitochondrial disease is discussed and emerging treatments are described. Finally, we provide a checklist of investigations for the gastroenterologist when mitochondrial disease is suspected.
authors.affiliation: Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK.
authors.forename: Thomas P
authors.initials: TP
authors.lastname: Chapman
authors.affiliation: Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK.
authors.forename: Gina
authors.initials: G
authors.lastname: Hadley
authors.affiliation: Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UK.
authors.forename: Carl
authors.initials: C
authors.lastname: Fratter
authors.affiliation: Buckinghamshire Hospitals NHS Trust, Department of Gastroenterology, Level 6, Queen Alexandra Road, High Wycombe, UK.
authors.forename: Sue N
authors.initials: SN
authors.lastname: Cullen
authors.affiliation: Division of Clinical Sciences, St. George's University of London, London, UK.
authors.forename: Bridget E
authors.initials: BE
authors.lastname: Bax
authors.affiliation: Division of Clinical Sciences, St. George's University of London, London, UK.
authors.forename: Murray D
authors.initials: MD
authors.lastname: Bain
authors.affiliation: Rectory Meadow Surgery, School Lane, Amersham, Bucks, UK.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Sapsford
authors.affiliation: Nuffield Dept Obstetrics and Gynaecology, University of Oxford, The Women's Centre, Oxford, UK.
authors.forename: Joanna
authors.initials: J
authors.lastname: Poulton
authors.affiliation: Translational Gastroenterology Unit, John Radcliffe Hospital, Oxford, UK. Electronic address: simon.travis@ndm.ox.ac.uk.
authors.forename: Simon P
authors.initials: SP
authors.lastname: Travis
mesh_terms: D000293:Adolescent; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000503:physiopathology*; D017240:Mitochondrial Myopathies / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D029241:Optic Atrophy, Autosomal Dominant / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D055815:Young Adult; D028361:Mitochondrial Diseases
chemical_list: D004272:DNA, Mitochondrial
keywords: Mitochondrial disease; Unexplained gastrointestinal symptoms