Division of Metabolic Diseases, Department of Internal Medicine, University of Debrecen Faculty of Medicine, Nagyerdei krt. 98, Debrecen, H-4032, Hungary.
Department of Hypertension, WAM University Hospital in Lodz, Medical University of Lodz, Lodz, Poland.
Lipids Health Dis. 2022 Feb 10;21(1):21. doi: 10.1186/s12944-022-01631-z.
The prevalence of hypertriglyceridemia has been increasing worldwide. Attention is drawn to the fact that the frequency of a special hypertriglyceridemia entity, named chylomicronemia syndrome, is variable among its different forms. The monogenic form, termed familial chylomicronemia syndrome, is rare, occuring in 1 in every 1 million persons. On the other hand, the prevalence of the polygenic form of chylomicronemia syndrome is around 1:600. On the basis of the genetical alterations, other factors, such as obesity, alcohol consumption, uncontrolled diabetes mellitus and certain drugs may significantly contribute to the development of the multifactorial form. In this review, we aimed to highlight the recent findings about the clinical and laboratory features, differential diagnosis, as well as the epidemiology of the monogenic and polygenic forms of chylomicronemias. Regarding the therapy, differentiation between the two types of the chylomicronemia syndrome is essential, as well. Thus, proper treatment options of chylomicronemia and hypertriglyceridemia will be also summarized, emphasizing the newest therapeutic approaches, as novel agents may offer solution for the effective treatment of these conditions.
全球范围内，高甘油三酯血症的患病率一直在上升。人们注意到一个事实，即一种名为乳糜微粒血症综合征的特殊高甘油三酯血症实体的频率在其不同形式之间存在差异。这种单基因形式，称为家族性乳糜微粒血症综合征，非常罕见，每 100 万人中仅有 1 例。另一方面，乳糜微粒血症综合征的多基因形式的患病率约为 1:600。基于遗传改变，肥胖、饮酒、未控制的糖尿病和某些药物等其他因素可能会显著促成多因素形式的发生。在这篇综述中，我们旨在强调关于单基因和多基因形式的乳糜微粒血症的临床和实验室特征、鉴别诊断以及流行病学的最新发现。关于治疗，区分这两种乳糜微粒血症综合征也是至关重要的，因为适当的乳糜微粒血症和高甘油三酯血症的治疗选择也将被总结，强调最新的治疗方法，因为新型药物可能为这些疾病的有效治疗提供解决方案。
