Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.
Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, University Medical Centre, Mathildenstraße 1, 79106, Freiburg, Germany.
Orphanet J Rare Dis. 2024 Jan 20;19(1):21. doi: 10.1186/s13023-024-03024-0.
Implementation of long-chain fatty acid oxidation defects (LCFAOD) in newborn screening (NBS) programs allows for pre-symptomatic diagnosis and treatment. The long-term natural history of NBS LCFAOD patients is largely unknown and may differ from clinically diagnosed pre-NBS patients. This complicates long-term monitoring of LCFAOD and may cause high monitoring variability. To gain insight in current clinical practice, we performed a web-based questionnaire among all metabolic members of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).
Thirty-seven colleagues representing at least 35 European metabolic centres shared their experience and results were discussed at the European Metabolic Group (EMG) meeting 2022. The centres concurred in many aspects of long-term monitoring of LCFAOD including the frequency of clinical visits, determination of laboratory parameters, cardiac monitoring and retinopathy screening. Main discrepancies comprised hepatic imaging, glucose monitoring and electrophysiological investigations.
Discrepancies may reflect differences in local availability of monitoring tools, the inclusion of LCFAOD in NBS programs as well as differences in local genotypes and phenotypes. Because monitoring strategies are largely based on the natural disease course of clinically identified patients, there might be over-monitoring of some NBS patients. Nevertheless, we advocate long-term monitoring because resulting information is essential to further characterize the natural disease course, develop evidence-based guidelines and provide a basis for evaluation of future therapies.
长链脂肪酸氧化缺陷（LCFAOD）在新生儿筛查（NBS）计划中的实施可实现症状前诊断和治疗。NBS LCFAOD 患者的长期自然病史在很大程度上是未知的，并且可能与临床诊断的 NBS 前患者不同。这使得 LCFAOD 的长期监测变得复杂，并可能导致监测的高度变异性。为了深入了解当前的临床实践，我们在遗传性代谢疾病欧洲参考网络（MetabERN）的所有代谢成员中进行了一项基于网络的问卷调查。
37 位代表至少 35 个欧洲代谢中心的同事分享了他们的经验，结果在 2022 年欧洲代谢小组（EMG）会议上进行了讨论。各中心在 LCFAOD 长期监测的许多方面达成了共识，包括临床访视的频率、实验室参数的确定、心脏监测和视网膜病变筛查。主要差异包括肝脏成像、血糖监测和电生理研究。
差异可能反映了监测工具的局部可用性、LCFAOD 是否纳入 NBS 计划以及局部基因型和表型的差异。由于监测策略主要基于临床确定的患者的自然疾病过程，因此可能对一些 NBS 患者进行过度监测。然而，我们提倡进行长期监测，因为所获得的信息对于进一步描述自然疾病过程、制定基于证据的指南以及为评估未来的治疗方法提供基础至关重要。
