Acute and Chronic Pancreatitis in Mitochondrial Disease: A Systematic Review.

Mitochondrial disease is a common inherited multisystem neurometabolic disorder. Pancreatic dysfunction is a recognised manifestation, most frequently presenting as mitochondrial diabetes. Although pancreatitis cases have been reported in association with mitochondrial disease, acute and chronic pancreatitis in this context remain poorly characterised. Following the PRISMA framework, we performed a systematic literature review to identify all published cases in which acute or chronic pancreatitis occurred in individuals with a genetically confirmed mitochondrial disease. Literature search yielded 604 publications, of which 19 fit the inclusion criteria. During revision two additional publications were identified, one of which fit the inclusion criteria. These 20 reports described 24 individuals with mitochondrial disease and documented history of acute or chronic pancreatitis. Mean age at first recorded pancreatitis was 13 years, with median age 10 years (range 3 months to 53 years). Pancreatitis was recurrent or chronic in 63% of cases. The most reported presenting symptoms were abdominal pain (38%) and vomiting (33%). None had established pancreatitis risk factors such as gallstones or alcohol misuse. In those who underwent imaging, no structural abnormalities of the pancreas or biliary tree were identified. Most frequent genetic aetiologies were large-scale mitochondrial DNA (mtDNA) deletions and the m.3243A>G mtDNA variant (29% each). Six patients (25%) died shortly after hospital admission with pancreatitis. Pancreatitis associated with mitochondrial disease often presents in childhood and is frequently recurrent or chronic. Although uncommon, it represents a clinically significant and potentially life-threatening complication that warrants increased awareness.