概述

家族性高胆固醇血症会影响人体处理胆固醇的方式。因此,家族性高胆固醇血症患者罹患心脏病的风险更高,早期心脏病发作的风险也更高。

导致家族性高胆固醇血症的基因来自遗传。该疾病自出生就存在。包括药物和健康生活方式在内的治疗方法有助于降低风险。

症状

高胆固醇是一种常见的医疗状况,往往是由不健康的生活方式引起,因此可以预防和治疗。患有家族性高胆固醇血症时,患者发生高胆固醇的风险更高,因为基因缺陷(突变)改变了机体处理胆固醇的方式。这种突变会阻止机体从血液中清除低密度脂蛋白 (LDL) 胆固醇,即“坏”胆固醇。因此,斑块会导致动脉狭窄和硬化,增加患心脏病的风险。利用基因检测可确定您是否有这种突变。

这些基因突变会从父母遗传给孩子。孩子需要从父母一方遗传一份突变后的基因拷贝,才会患病。大多数家族性高胆固醇血症患者都携带一个突变基因和一个正常基因。极少数情况下会从父母双方遗传突变基因拷贝,这可能导致更严重的情况。

病因

家族性高胆固醇血症是由父母一方或双方遗传的基因所引起。有些人天生就患有此病。这种缺陷会阻止身体清除某种会在动脉中积聚进而引发心脏病的胆固醇。此类胆固醇叫做低密度脂蛋白,也称为 LDL 或坏胆固醇。LDL 胆固醇会使动脉变硬变窄。这会增加患心脏病和心脏病发作的风险。

风险因素

如果您的父母中有一人或两人均有导致家族性高胆固醇血症的基因缺陷,那么您患此病症的风险会较高。此病症的大多数患者都有一个受影响的基因。但在极少数病例中,孩子会从父母双方继承到受影响的基因。这可能导致这种状况出现一种更严重的形式。

并发症

People who have familial hypercholesterolemia have a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and age 60 in women. The rarer and more severe variety of the condition, if undiagnosed or untreated, can cause death before age 20.

July 02, 2022
  1. Learning about familial hypercholesterolemia. National Human Genome Research Institute. http://www.genome.gov. Accessed Jan. 27, 2016.
  2. Familial hypercholesterolemia. MedlinePlus. https://www.nlm.nih.gov/medlineplus. Accessed Feb. 3, 2016.
  3. Hartgers ML, et al. New approaches in detection and treatment of familial hypercholesterolemia. Current Cardiology Reports. 2015:17:109.
  4. Pagon RA, et al., eds. Familial hypercholesterolemia. In: GeneReviews. Seattle, Wash.: University of Seattle, Washington; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1116. Accessed Jan. 6, 2016.
  5. National Library of Medicine. Hypercholesterolemia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/hypercholesterolemia. Accessed Jan. 6, 2016.
  6. Integrated guidelines for cardiovascular health and risk reduction in children and adolescents. Bethesda, Md.: National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/guidelines/cvd_ped/index.htm. Accessed Dec. 7, 2015.
  7. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: Summary report. National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov. Accessed Jan. 5, 2016.
  8. Rosenson RS, et al. Inherited disorders of LDL-cholesterol metabolism. http://www.uptodate.com/home. Accessed Jan. 6, 2016.
  9. Robinson JG. Management of familial hypercholesterolemia: A review of the recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. Journal of Managed Care Pharmacy. 2013;19:139. http://www.amcp.org/WorkArea/DownloadAsset.aspx?id=16222. Accessed Feb. 15, 2016.
  10. Dyslipidemia in children: Management. http://www.uptodate.com/home. Accessed Jan. 15, 2016.
  11. Goldman L, et al., eds. Disorders of lipid metabolism. In: Goldman-Cecil Medicine. 25th ed. Philadelphia, Pa.: Saunders Elsevier; 2016. http://www.clinicalkey.com. Accessed Jan. 13, 2016.
  12. Drug therapy for cholesterol. American Heart Association. http://www.heart.org/HEARTORG/Conditions/Cholesterol/PreventionTreatmentofHighCholesterol/Drug-Therapy-for-Cholesterol_UCM_305632_Article.jsp#.Vpkg59hIiic. Accessed Jan. 15, 2016.