Clinical Systematic Review
Digestive signs in mitochondrial disorders
Diego Martinelli 1, Daria Diodato 2, Giorgia Olivieri 1, Carlo Dionisi-Vici 1
1U.O.C. di Patologia Metabolica, Ospedale Pediatrico Bambino Gesù, IRCCS2U.O.C. di Malattie Neuromuscolari e Neurodegenerative, Ospedale Pediatrico Bambino Gesù, IRCCS
Mitochondrial disorders (MDs) are multi-systemic diseases affecting predominantly organs or systems with high-energy metabolism such as central nervous system, heart and skeletal muscle. However, all organs can be variably affected. Gastrointestinal (GI) manifestations in MDs are more frequent than initially estimated. Diagnosis of GI involvement in MDs is often complex. Treatment is based on invasive and noninvasive measures and is, with rare exceptions, symptomatic. Causal treatment is available only for few conditions such as the Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE), where an approach based on the use of autologous stem cells or liver transplantation is possible. Early GI diagnosis in MDs allows early treatment to improve symptom management, at the same time avoiding approaches that may worsen intracellular toxicity from mitochondrial dysfunction. This review aims to describe in detail the actual evidences in literature on the clinical presentation, diagnosis and treatment of GI disorders in MDs.