Perioperative management of coexistent fat oxidation defect and malignant hyperthermia

• Main Author: Nair, Saeda
• Format: Web Resource
• Language: English
• Published: Morressier 01.01.2017
• DOI: 10.26226/morressier.57108e2dd462b80290b49ed0

Background: We present the anesthetic management of an adult with an unusual and challenging combination of multiple acyl-CoA dehydrogenase deficiency (MADD) and malignant hyperthermia.Case report: A 28 year old male with late-onset MADD and malignant hyperthermia presented for elective urethroplasty. Anesthetic considerations for this patient included avoidance of inhalational agents and management of impaired oxidation of fatty acids with prolonged propofol infusion. Metabolic disturbances were minimized by giving clear fluids 2 hours prior to surgery and starting a 10% dextrose infusion on admission. Anesthesia was induced and maintained with propofol and remifentanil. Serial blood gases, blood glucose, lactate and creatine kinase levels were measured to rule out metabolic disturbances from the disease process itself and prolonged propofol infusion. The post operative period was uneventful. Discussion: MADD, also known as glutaric aciduria type 2 (GA2), is an autosomal recessive inborn error of metabolism affecting the oxidation of fatty acids. MADD is caused by deficiency of either an electron-transfer flavoprotein (ETF) or an electron-transfer flavoprotein dehydrogenase (ETFDH)1. The incidence of this disease is unknown. The mitochondrial electron transport chain can be affected by propofol. Anesthetic managment has been described using both total intravenous anesthesia and volatile anesthetics2. In our case volatile anesthetics had to be avoided and patients with mitochondrial disorder are at a higher risk to develop propofol infusion syndrome.References: 1. Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, et al . ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007; 130:2045-54.2. Farag E, Argalious M, Narouze S, DeBoer GE, Tome J. The anesthetic management of ventricular septal defect (VSD) repair in a child with mitochondrial cytopathy. Can J Anaesth. 2002;49(9):958-962.Learning points: The perioperative concerns for patients with mitochondrial disease include maintenance of normoglycemia, normothermia and reducing metabolic stress. There are also concerns with use of propofol as beta oxidation of fatty acids are impaired especially with prolonged infusions. This rare presentation of both malignant hyperthermia and fat oxidation defects highlights the implication of these pathophysiological processes in the perioperative period.