Managing the challenging homozygous familial hypercholesterolemia patient: Academic insights and practical approaches for a severe dyslipidemia, a National Lipid Association Masters Summit

Journal of Clinical Lipidology
G Kees HovinghPatrick M Moriarty

Abstract

The following article represents material presented and discussed at a symposium hosted by the National Lipid Association hosted entitled "Managing the Challenging Homozygous Familial Hypercholesterolemia Patient-Academic Insights and Practical Approaches for a Severe Dyslipidemia" on November 7, 2015 in Orlando, FL. Presenters included G.K.H., A.C.G, and P.M.M. The diagnosis and genetic causes of extremely high low-density lipoprotein (LDL) cholesterol, which has become known as homozygous familial hypercholesterolemia, were discussed. This disorder in adults manifest often by LDL cholesterol in excess of 500 occurs in several populations with a prevalence of 1 in 300,000. In more sequestered areas, the frequency may be much greater due to founder effects of specific settlers carrying the responsible alleles. Although the great majority of these patients have a variant sequences in the LDL receptor gene, variants in the apolipoprotein B, proprotein convertase subtilisin kexin type 9, or LDL receptor adaptor protein gene loci can also be causative. Some individuals have additional genetic abnormalities, which have not been fully revealed. In most studies, the diagnosis has depended on predefined clinical findings in association...Continue Reading

Citations

May 23, 2018·European Journal of Preventive Cardiology·Paola S BuonuomoAndrea Bartuli
Dec 13, 2017·Annals of Saudi Medicine·Khalid Khalaf AlharbiImran Ali Khan
Jun 7, 2018·European Journal of Preventive Cardiology·Željko Reiner
Jun 15, 2018·Journal of Atherosclerosis and Thrombosis·Long JiangXiao-Shu Cheng
Jul 11, 2020·Journal of the American College of Cardiology·Dirk J BlomRobert S Rosenson
Jul 14, 2021·Expert Review of Cardiovascular Therapy·Bruce A Warden, P Barton Duell
Mar 9, 2019·Nano Letters·Markus AxmannBirgit Plochberger
Dec 22, 2020·Future Cardiology·Julia Brandts, Kausik K Ray

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