Executive SummaryFamilial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Section snippets
Background and rationale
The familial hypercholesterolemias (FH) are a group of genetic defects resulting in severe elevations of blood cholesterol levels. Although the term FH has, in the past, been used to refer specifically to LDL receptor (LDLR) defects, this document will use a broader definition to reflect discoveries of defects in the genes for apolipoprotein (Apo) B, proprotein convertase subtilisin/kexin type 9 (PCSK9), and possibly others yet to be described, which produce severe hypercholesterolemia and
Concluding statements
FH is a difficult to treat but manageable disease. Primary care clinicians should be aware of the key role they play in the early detection and treatment of FH, and of the availability of additional support and guidance from lipid specialists who have undergone intensive training in the management of lipid disorders. Key elements for control of FH include reducing the LDL cholesterol concentration, management of additional CHD risk factors, such as elevated blood pressure and smoking, and
Acknowledgments
The paper, “Familial Hypercholesterolemia: Screening, Diagnosis and Management of Pediatric and Adult Patients—Clinical Guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia” has been endorsed by the American Society for Preventive Cardiology, Association of Black Cardiologists, International Cholesterol Foundation, and the Preventive Cardiovascular Nurses Association.
The authors would like to thank Mary R. Dicklin, PhD, and Kevin C. Maki, PhD, for writing
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Treatment of adults with Familial Hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
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Cited by (0)
This article also appears in Volume 5, Issue 3 (May/June 2011) of the Journal of Clinical Lipidology.