Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario de Valencia-INCLIVA, Valencia, España; Departamento de Medicina, Universitat de Valencia, Valencia, España; CIBER de Diabetes y Enfermedades Metabólicas asociadas (CIBERDEM), Valencia, España.
Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario de Valencia-INCLIVA, Valencia, España; Departamento de Medicina, Universitat de Valencia, Valencia, España; CIBER de Diabetes y Enfermedades Metabólicas asociadas (CIBERDEM), Valencia, España.
Clin Investig Arterioscler. 2021 May;33 Suppl 2:63-68. doi: 10.1016/j.arteri.2020.12.011.
Hypolipoproteinemias are characterized by a decrease in the plasma concentration of lipoproteins. Within them, we find two groups: hypobetalipoproteinemias (HBL), due to a decrease in the plasma concentration of lipoproteins containing apolipoprotein B, and hypoalphalipoproteinemias. Hypolipoproteinemias can be classified according to their origin, into primary and secondary. Primary HBLs are rare entities produced by mutations in different genes. So far, more than 140 mutations have been identified in the APOB, PCSK9, ANGPTL3, MTTP, and SAR1 genes. Early diagnosis and treatment are essential to avoid the development of serious complications. In this review we address the diagnosis and treatment of HBL, especially those in which there is hypotriglyceridemia.
低脂蛋白血症的特征是血浆脂蛋白浓度降低。在这些疾病中,我们发现有两个亚组:载脂蛋白 B 所含脂蛋白血浆浓度降低的低β脂蛋白血症(HBL),以及低α脂蛋白血症。低脂蛋白血症可根据其起源分为原发性和继发性。原发性 HBL 是由不同基因的突变引起的罕见疾病。到目前为止,在 APOB、PCSK9、ANGPTL3、MTTP 和 SAR1 基因中已经发现了 140 多种突变。早期诊断和治疗对于避免严重并发症的发生至关重要。在这篇综述中,我们讨论了 HBL 的诊断和治疗,特别是那些伴有严重甘油三酯血症的疾病。