“REEL” Time Patient Counseling: Optimal Approaches for Managing and Monitoring Patients With LC-FAOD

Target Audience
This educational activity is directed toward pediatricians, primary care providers, metabolic dietitians, endocrinologists, neurologists, including neuromuscular specialists, nephrologists, geneticists and genetic counselors, nurse practitioners, physician assistants, and other health care professionals involved in the care of patients with metabolic disorders.

Program Overview
In this CME-certified activity, Jerry Vockley, MD, PhD, is joined by Suzanne Hollander, MS, RD, to explore the diagnosis and management of long-chain fatty acid oxidation disorders (LC-FAODs). These disorders are recessively inherited inborn errors of mitochondrial fatty acid oxidation. LC-FAODs are caused by defects in the metabolic pathway that converts stored long-chain fatty acids into energy within muscles and other cells, leading to a deficiency in mitochondrial energy production during times of physiologic stress and fasting. LC-FAODs cause serious clinical complications, including cardiomyopathy, recurrent episodes of rhabdomyolysis, weakness, hepatic failure, hypoglycemia, and hyperammonemia. These complications persist in patients despite decades of dietary therapy, a diet rich in even-carbon, medium-chain triglycerides (MCT), or a combination of both. Premature mortality may reach 60% to 90% in patients with these diseases.

In this activity, Dr Vockley discusses key issues of pathophysiology, early diagnosis, and optimal management of patients with LC-FAODs, while Ms. Hollander talks with an actor playing the role of a parent of a child with an LC-FAOD. They demonstrate some of the common concerns of patients and their families, and how health care providers can offer information and assistance in a timely and developmentally appropriate manner.

Learning Objectives
Upon completion of this activity, participants should be better able to:

Determine clinical signs and testing approaches to facilitate diagnosis of long-chain fatty acid oxidation disorders (LC-FAOD)
Identify approaches for optimal, individualized management and monitoring of patients with LC-FAOD
Assess data regarding the mechanism of action, safety, and efficacy results from recent clinical trials that evaluated emerging strategies among patients with LC-FAOD