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30-05-2011 | Cardiometabolic | Article

NLA releases guidance on screening, diagnosis, and management of FH


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MedWire News: All individuals should be screened for elevated serum cholesterol levels before they reach 20 years of age, according to a statement released by the National Lipid Association (NLA) Expert Panel on Familial Hypercholesterolemia (FH).

The statement also provides further guidance relating to the screening, diagnosis, and management of pediatric and adult FH patients.

"The prevalence of FH is one in 300 to 500 in many populations, making FH among the most common of serious genetic disorders," writes the team in the Journal of Clinical Lipidology.

In addition, "the risk of premature coronary heart disease (CHD) is elevated about 20-fold in untreated FH patients."

Anne Goldberg (Washington University Medical School, Saint Louis, Missouri, USA), chair of the panel that developed the statement, said: "This report goes beyond previously published guidelines by providing specific clinical guidance for the primary care clinician and lipid specialist, with the goal of improving care of patients with FH and reducing their elevated risk for CHD."

The panel recommends that screening for elevated serum cholesterol should be performed in all individuals by the age of 20 years, and that FH should be suspected when low-density lipoprotein (LDL) or non-high-density lipoprotein (nonHDL) cholesterol levels are at or above 190 or 220 mg/dl (4.92 or 5.70 mmol/l), respectively, or at or above 160 or 190 mg/dl (4.14 or 4.92 mmol/l) in children, adolescents, and young adults (<20 years).

Specifically, the authors suggest that initial screening should be performed at age 9 to 11 years, because at this age, screening "identifies individuals at the potential onset of advanced atherosclerosis, and provides the best discrimination between those with and without inherited dyslipidemias."

They also say that cholesterol screening should be considered from 2 years of age in children with a family history of premature cardiovascular disease.

"The clinical diagnosis of FH is most likely when two or more first-degree relatives are identified in the family," write Goldberg and team.

Therefore, "once a family is diagnosed with FH, somewhat lower LDL cholesterol cut points can be applied to identify additional affected family members."

The researchers say that once a patient is diagnosed with FH, they should initially be treated with moderate to high doses of high-potency statins to achieve an LDL cholesterol reduction of more than 50%.

In addition, patients should consider lifestyle modifications, such as increasing physical activity, reducing intake of saturated fats and cholesterol, and limiting alcohol consumption. Smoking cessation is also recommended.

"Primary care clinicians should be aware of the key role they play in the early detection and treatment of FH," remark Goldberg et al.

Furthermore, "to promote early diagnosis of FH and the prevention and treatment of CHD, public awareness of FH needs to be increased," concludes the team.

MedWire ( is an independent clinical news service provided by Springer Healthcare Limited. © Springer Healthcare Ltd; 2011

By Nikki Withers