title: Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243A&gt;G mutation.
abstract: BACKGROUND
  Previous research has shown that dysphagia and gastrointestinal problems occur frequently in carriers of the m.3243A>G mutation; however, the exact frequency and severity have not been determined. We hypothesise that adult carriers have an increased risk for malnutrition.
  
  
  METHODS
  In this observational study we evaluated the presence of gastrointestinal problems and dysphagia in 92 carriers of the m.3243A>G mutation. The severity of the general disease involvement was classified using the Newcastle Mitochondrial Disease Adult Scale (NMDAS). Gastrointestinal involvement, dysphagia and the risk for malnutrition were scored using the Gastrointestinal Symptoms Questionnaire and the Malnutrition Universal Screening Tool. Gastrointestinal symptoms and anthropometrics were compared with healthy controls.
  
  
  RESULTS
  Our results show that the height, weight and body mass index (BMI) of these carriers were lower than the national average (p < 0.05). Seventy-nine carriers (86%) suffered from at least one gastrointestinal symptom, mainly flatulence or hard stools. Both frequency and severity of symptoms were significantly increased compared with reference data of healthy Dutch adults. Of the carriers, 45% reported (mostly mild) dysphagia. Solid foods cause more problems than liquids. A negative correlation between BMI and heteroplasmy levels in urinary epithelial cells (UEC) was present (Spearman correlation coefficient = - 0.319, p = 0.003).
  
  
  CONCLUSIONS
  Dysphagia and gastrointestinal problems, especially constipation, are common symptoms in the total m.3243A>G carriers cohort and are not related to heteroplasmy levels in UEC or disease severity. The severity of gastrointestinal problems as well as overall disease severity is associated with an increased risk for malnutrition.
authors.affiliation: Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Departments of Gastroenterology and Hepatology, Rehabilitation÷Speech Pathology, Internal Medicine, Radboudumc, Nijmegen, the Netherlands, *corresponding author: tel.: +31(0)24-3619190, email: Heidi.Zweers-vanEssen@radboudumc.nl, #Both authors contributed equally.
authors.forename: P
authors.initials: P
authors.lastname: de Laat
authors.forename: H E E
authors.initials: HE
authors.lastname: Zweers
authors.forename: S
authors.initials: S
authors.lastname: Knuijt
authors.forename: J A M
authors.initials: JA
authors.lastname: Smeitink
authors.forename: G J A
authors.initials: GJ
authors.lastname: Wanten
authors.forename: M C H
authors.initials: MC
authors.lastname: Janssen
mesh_terms: D000328:Adult; D003248:Constipation / Q000209:etiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003680:Deglutition Disorders / Q000209:etiology / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D044342:Malnutrition / Q000209:etiology / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D011795:Surveys and Questionnaires
chemical_list: D004272:DNA, Mitochondrial