Head of Clinical Services, SmithRx, Salt Lake City, UT. Email:
Am J Manag Care. 2020 Aug;26(7 Suppl):S155-S161. doi: 10.37765/ajmc.2020.88479.
Long-chain fatty acid oxidation disorders (LC-FAODs) represent a group of rare inborn errors of metabolism characterized by acute crises of energy metabolism and severe energy deficiency. Clinical manifestations include rhabdomyolysis, liver dysfunction, severe hypoglycemia, and cardiomyopathy. The symptoms associated with these genetic disorders may result in frequent hospitalizations and early death. Many patients with LC-FAODs experience major clinical events and significant morbidity and mortality that portends a substantial need for better therapeutic options for these disorders. Triheptanoin was recently approved for the treatment of LC-FAODs. As with any novel agent for rare diseases, the treatment adoption and coverage criteria for rare disease therapy such as this presents challenges for managed care decision makers. Both managed care decision makers and specialty pharmacists must ensure that healthcare professionals provide appropriate patient and caregiver education surrounding the management of LC-FAODs, including vital information on adopting emerging agents into the therapy armamentarium for these disorders.
长链脂肪酸氧化障碍（LC-FAOD）是一组罕见的代谢性遗传疾病，其特征为急性能量代谢危机和严重能量缺乏。临床表现包括横纹肌溶解症、肝功能障碍、严重低血糖和心肌病。这些遗传疾病相关的症状可能导致频繁住院和早期死亡。许多 LC-FAOD 患者经历重大临床事件和显著的发病率和死亡率，预示着这些疾病需要更好的治疗选择。三庚酸最近被批准用于治疗 LC-FAOD。与任何用于治疗罕见疾病的新型药物一样，这种治疗方法的采用和罕见疾病治疗的覆盖标准对于管理式医疗保健决策者来说都是一个挑战。管理式医疗保健决策者和专业药剂师都必须确保医疗保健专业人员围绕 LC-FAOD 的管理为患者及其护理人员提供适当的教育，包括有关将新兴药物纳入这些疾病治疗方案的重要信息。
