BACKGROUND Lysosomal acid lipase (LAL) deficiency is an ultra-rare, progressive, autosomal recessive disorder. Functional mutations in LIPA, the gene that encodes LAL, result in accumulation of cholesteryl esters and triglycerides in hepatocytes and in the macrophages of the intestines, vascular endothelial system, and numerous other organs. LAL deficiency has a broad clinical spectrum; children and adults can present with dyslipidemia, liver enzyme elevations, hepatosplenomegaly, hepatic steatosis, liver fibrosis and/or cirrhosis, and vascular disease, which may lead to significant morbidity and premature mortality in some patients. Given the systemic involvement and the wide range of healthcare specialists who manage patients with LAL deficiency, there is a need for guidelines to assess and monitor disease involvement. OBJECTIVES To provide a set of recommendations for the initial assessment and ongoing monitoring of patients with LAL deficiency to help physicians in various disciplines effectively manage the disease based on the observed presentation and progression in each case. METHODS A group of internationally recognized healthcare specialists with expertise in clinical genetics, pathology, hepatology, gastroenterology, cardiology, and lipidology convened to develop an evidence-based consensus of best practices for the initial assessment and ongoing monitoring of children and adults with LAL deficiency, regardless of treatment status; infants with LAL deficiency have been excluded from these guidelines because they require specialized care. RESULTS The authors present guidance for the assessment and monitoring of patients with LAL deficiency based on age and disease manifestations that include the hepatic, cardiovascular, and gastrointestinal systems. A schedule for ongoing monitoring of disease progression is provided. In addition, the need to establish an interdisciplinary and integrated care team to optimize the approach to managing this systemic disease is highlighted. CONCLUSIONS There is currently no published guidance on the assessment and monitoring of patients with LAL deficiency. These consensus recommendations for the initial assessment and ongoing monitoring of children and adults with LAL deficiency are intended to help improve the management of these patients.

中文翻译：

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儿童和成人溶酶体酸性脂肪酶缺乏症的初步评估和持续监测：国际合作工作组的共识建议。


背景溶酶体酸性脂肪酶（LAL）缺乏症是一种极其罕见的进行性常染色体隐性遗传疾病。编码 LAL 的基因 LIPA 的功能突变会导致肝细胞、肠道巨噬细胞、血管内皮系统和许多其他器官中胆固醇酯和甘油三酯的积累。 LAL 缺乏症具有广泛的临床谱；儿童和成人可出现血脂异常、肝酶升高、肝脾肿大、肝脂肪变性、肝纤维化和/或肝硬化以及血管疾病，这可能导致某些患者显着发病和过早死亡。鉴于治疗 LAL 缺乏症患者的系统性参与和广泛的医疗保健专家，需要制定评估和监测疾病参与的指南。目标 为 LAL 缺乏症患者的初步评估和持续监测提供一套建议，以帮助各学科的医生根据观察到的每个病例的表现和进展有效地管理疾病。方法 一群在临床遗传学、病理学、肝病学、胃肠病学、心脏病学和脂质学方面具有专业知识的国际公认的医疗保健专家聚集在一起，就对患有 LAL 缺乏症的儿童和成人进行初步评估和持续监测的最佳实践达成了基于证据的共识。无论治疗状况如何；患有 LAL 缺乏症的婴儿已被排除在这些指南之外，因为他们需要专门护理。结果 作者提出了根据年龄和疾病表现（包括肝脏、心血管和胃肠系统）评估和监测 LAL 缺乏症患者的指南。 提供了持续监测疾病进展的时间表。此外，还强调需要建立一个跨学科和综合护理团队，以优化管理这种全身性疾病的方法。结论 目前尚无关于 LAL 缺乏症患者评估和监测的已发表指南。这些针对 LAL 缺乏症儿童和成人的初步评估和持续监测的共识建议旨在帮助改善这些患者的管理。