GI Symptoms Seen in Mitochondrial Disease

admin  ∼  September 5, 2014  ∼  Mitochondrial disease Symptom Diagnose GI Evaluation Liver Failure to Thrive MNGIE TPN Alpers Dysmotility

VMP's Dr Fran Kendall Factoid Friday Blog on Rare Diseases


Although not among the five most energy dependent organ systems, the G.I. system is often affected in mitochondrial patients. The G.I. symptoms commonly seen in mitochondrial disease include failure to thrive to severe cachexia in MNGIE to "simple" reflux and gastroparesis, the latter problem resulting in severe bloating and feelings of chronic fullness. Many patients struggle with dysmotility that ranges from constipation, intermittent bowel shutdown known as pseudo-obstruction to complete bowel failure requiring the use of TPN. Liver failure can also present as a primary feature in mitochondrial disease and several subtypes such as Alpers disease often lead to death due to liver dysfunction. Fortunately, many of the complications seen in mito patients that affect the G.I. system are treatable with aggressive therapies. As a requested lecturer on the G.I. complications in mitochondrial disease, VMP has extensive experience in the treatment of these G.I. issues and often helps many of our patients deal with these difficult and chronic complications successfully.

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