Bogsrud Martin P, Ulven Stine M, Holven Kirsten B
aDepartment of Endocrinology, Morbid Obesity, and Preventive Medicine, Norwegian National Advisory Unit on Familial Hypercholesterolemia, Oslo University Hospital bDepartment of Nutrition, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, Oslo, Norway.
Curr Opin Lipidol. 2016 Aug;27(4):382-7. doi: 10.1097/MOL.0000000000000299.
There is currently limited information as to whether maternally or paternally inherited familial hypercholesterolemia confers different phenotype risk to offspring. Knowledge about the differences in risk conferred by inheritance could be important with respect to follow-up and more individually targeted treatment of subjects with familial hypercholesterolemia.
Few studies have, with inconsistent results so far, investigated the significance of familial hypercholesterolemia inheritance on cardiovascular risk markers in offspring. Maternal inheritance of familial hypercholesterolemia includes hypercholesterolemic in-utero conditions for the offspring. How this may influence later risk is briefly discussed in the article.
Current data suggest that the dominating factor of the familial hypercholesterolemia (FH) phenotype is the mutation and not the inheritance, however, maternal inheritance of FH has been reported to adversely affect FH phenotype in terms of increased mortality. More knowledge about how intrauterine hypercholesterolemia during pregnancy influences epigenetic modifications and later cardiovascular disease risk in offspring is needed and this may open up new avenues of treatment of pregnant women with familial hypercholesterolemia.
目前关于母系或父系遗传的家族性高胆固醇血症是否会给后代带来不同的表型风险，信息有限。了解遗传所带来的风险差异，对于家族性高胆固醇血症患者的随访以及更具个体化的靶向治疗可能具有重要意义。
到目前为止，很少有研究对家族性高胆固醇血症遗传对后代心血管风险标志物的影响进行调查，结果并不一致。家族性高胆固醇血症的母系遗传包括后代在子宫内处于高胆固醇血症状态。本文简要讨论了这可能如何影响后期风险。
目前的数据表明，家族性高胆固醇血症（FH）表型的主要因素是突变而非遗传，然而，据报道，FH的母系遗传在增加死亡率方面对FH表型有不利影响。需要更多关于孕期子宫内高胆固醇血症如何影响表观遗传修饰以及后代后期心血管疾病风险的知识，这可能为患有家族性高胆固醇血症的孕妇开辟新的治疗途径。
