My Approach to the Patient With Familial Hypercholesterolemia. Mayo Clin Proc 2016 Jun;91(6):770-86
Date
06/05/2016Pubmed ID
27261867Pubmed Central ID
PMC5374743DOI
10.1016/j.mayocp.2016.04.013Scopus ID
2-s2.0-84982105651 (requires institutional sign-in at Scopus site) 33 CitationsAbstract
Familial hypercholesterolemia (FH), a relatively common Mendelian genetic disorder, is associated with a dramatically increased lifetime risk of premature atherosclerotic cardiovascular disease due to elevated plasma low-density lipoprotein cholesterol (LDL-C) levels. The diagnosis of FH is based on clinical presentation or genetic testing. Early identification of patients with FH is of great public health importance because preventive strategies can lower the absolute lifetime cardiovascular risk and screening can detect affected relatives. However, low awareness, detection, and control of FH pose hurdles in the prevention of FH-related cardiovascular events. Of the estimated 0.65 million to 1 million patients with FH in the United States, less than 10% carry a diagnosis of FH. Based on registry data, a substantial proportion of patients with FH are receiving no or inadequate lipid-lowering therapy. Statins remain the mainstay of treatment for patients with FH. Lipoprotein apheresis and newly approved lipid-lowering drugs are valuable adjuncts to statin therapy, particularly when the LDL-C-lowering response is suboptimal. Monoclonal antibodies targeting proprotein convertase subtilisin/kexin type 9 provide an additional approximately 60% lowering of LDL-C levels and are approved for use in patients with FH. For homozygous FH, 2 new drugs that work independent of the LDL receptor pathway are available: an apolipoprotein B antisense oligonucleotide (mipomersen) and a microsomal triglyceride transfer protein inhibitor (lomitapide). This review attempts to critically examine the available data to provide a summary of the current evidence for managing patients with FH, including screening, diagnosis, treatment, and surveillance.
Author List
Safarova MS, Kullo IJAuthor
Maya S. Safarova MD, PhD Assistant Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Age of Onset
Cardiovascular Diseases
Child
Cholesterol, HDL
Early Diagnosis
Family Health
Female
Genetic Predisposition to Disease
Genetic Testing
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Hyperlipoproteinemia Type II
Liver Transplantation
Male
Mass Screening
Middle Aged
Portacaval Shunt, Surgical
Prevalence
Primary Prevention
Sex Distribution
Triglycerides
