M2017 Assessment of Hypercoagulability in Drug Refractory Gastroparesis Patients Undergoing Permanent Gastric Electrostimulation

Abstract

prospectively identified CIPO patients. Methods: 25 CIPO patients (10 F, age range: 16-85 yrs), diagnosed between 2006 and 2009 according to defined criteria (Stanghellini et al., Gut, 1987), entered the study. Each patient underwent a formal neurological assessment, electromyography and sympathetic skin response. Based on the neurological examination and neurophysiological tests, CIPO patients were divided into three groups: 1) polyneuropathy; 2) suspected mitochondrial encephalomyopathy; and 3) idiopathic CIPO. Group 1 and 2 were examined by skeletal muscle or skin biopsy, microneurography, MR spectroscopy, genetic tests as well as serological and cerebrospinal fluid exams, to define the origin of their neurological impairment. Results: A number of 8/25 (32%) CIPO showed neurological impairment: 5 patients had mitochondrial encephalomyopathies and 3 peripheral small fiber (including autonomic) neuropathy. Of the 5 encephalomyopathies, 4 had mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) with mutations in TP/ECGF1 gene and 1 had myoclonic epilepsy and ragged red fiber disease (MERRF) phenotype carrying the 3243A>G mtDNA MELAS mutation. Notably, these patients came to medical observation because of prominent and severe gastrointestinal symptoms present at the onset of their disease. Muscle biopsies showed COX negative fibers in the MNGIE and MERRF patients, whereas theMERFF patient also had red-ragged fibers. Increased SDH staining andmyopathic features were seen in all biopsies. mtDNA analysis revealed a combination of multiple deletions and depletion in the MNGIE and MERFF patients. Ultrastructural analysis showed intramitochondral paracrystalline inclusions. Of the 3 patients with small fibers polyneuropathy, 1 had chronic inflammatory demyelinating polyneuropathy, whereas 2 had an idiopathic disease. Notably, the first patient of this group improved dramatically with a high dose course of i.v. Ig therapy. Conclusions: Accurate evaluation and tests unravelled a subgroup of CIPOpatients with a neurological origin.Mitochondrial diseases and peripheral neuropathy can both contribute to severe gut dysmotility. Neurological identification is crucial for an appropriate management of these complicated cases.