Muhammad Nadeem1, Julian Ambrus, MD1, Steven Schwaitzberg, MD1, John Butsch, MD2. 1University at Buffalo, 2Buffalo General Medical Center
Introduction: Mitochondria is a small energy producing structure of a cell. Mitochondrial myopathy (MM) is mixed disorder clinically, which can affect various systems besides skeletal muscle. MM starts with muscle weakness or exercise weakness. MM patients have decreased skeletal muscle mitochondrial function than the healthy person, because of weakened intrinsic mitochondrial function and decreased mitochondrial volume density. No one has studied the MM role in GERD and constipation so far. This study is aimed to see effects of MM on the gastrointestinal system specifically gastroesophageal reflux disease (GERD), gall bladder issues, and constipation.
Methods: Between May 2011 and June 2016, 101 MM diagnosed patients at Buffalo General Hospital were included in this retrospective study. We assessed their DeMeester score for GERD and Wexner’s constipation questionnaire for constipation. DeMeester Score >14 and constipation score >15 were set points for GERD and constipation respectively. Data was analyzed by using SPSS version 24. Mitochondrial enzymes were assessed by using their muscle biopsy report.
Results: Out of 101 (85.1% female, 14.9% male) mitochondrial myopathy patients, 38.6% and 13.9% were suffering from GERD and constipation respectively. 35.1%, 43.4% and 95.9% patients had gall bladder issues, obstructive sleep apnea (OSA) and fatigue respectively. MM GERD patients (87.2% female, 12.8 male) had mean DeMeester score 22.56 (SD: 6.49) more than normal although 76.3% patients were on GERD medications and 29.2 % patients had NADH cytochrome C reductase, cytochrome C oxidase and citrate synthase abnormal mitochondrial enzyme in MM associated GERD but 26.1% MM patients had abnormal cytochrome C oxidase enzyme only. MM along with constipation had mean wexner’s constipation score 19.14 (SD: 2.568) more than the normal although 94.9% were taking enema, medications or digital assistance. 50 % patients had cytochrome C oxidase and NADH cytochrome C reductase enzymes were abnormal in those patients. 29.4% MM associated gall bladder issues patients had cytochrome C oxidase abnormal. 63.6% MM associated GERD and constipation patients had gall bladder issues.
Conclusion: In this present study, we found that MM had effects on gastrointestinal system causing GERD, constipation and gall bladder issues. GERD, constipation and gall bladder problems are common in MM patients even patients are taking medications for GERD and constipation. Cytochrome C oxidase, citrate synthase and NADH cytochrome C reductase are the most commonly impaired mitochondrial enzyme in MM patients and MM associated GERD, constipation and gall bladder issues patients.
Presented at the SAGES 2017 Annual Meeting in Houston, TX.
Abstract ID: 88550
Program Number: P076
Presentation Session: iPoster Session (Non CME)
Presentation Type: Poster
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