Two Years after Molecular Diagnosis of Familial Hypercholesterolemia: Majority on Cholesterol-Lowering Treatment but a Minority Reaches Treatment Goal

• Published in: PloS one Vol. 5; no. 2; p. e9220
• Main Authors: Huijgen, Roeland, Kindt, Iris, Verhoeven, Sjoerd B. J., Sijbrands, Eric J. G., Vissers, Maud N., Kastelein, John J. P., Hutten, Barbara A.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 15.02.2010; Public Library of Science (PLoS)
• Subjects: Adolescent; Adult; Age; Aged; Anticholesteremic agents; Anticholesteremic Agents - therapeutic use; Apolipoproteins; Apolipoproteins B - genetics; Atherosclerosis; Cardiac patients; Cardiovascular disease; Cardiovascular diseases; Cardiovascular Disorders/Coronary Artery Disease; Care and treatment; Cholesterol; Cholesterol, LDL - blood; Diagnosis; Drugs; Follow-Up Studies; Genetic aspects; Genetic Testing; Genetics and Genomics/Genetics of Disease; Genetics and Genomics/Medical Genetics; Health aspects; Health risks; Heart; Humans; Hypercholesterolemia; Hyperlipoproteinemia Type II - diagnosis; Hyperlipoproteinemia Type II - drug therapy; Hyperlipoproteinemia Type II - genetics; Lipids; Lipoproteins (low density); Low density lipoprotein; Low density lipoproteins; Males; Medical diagnosis; Medicine; Middle Aged; Mutation; Netherlands; Outcome Assessment, Health Care - methods; Outcome Assessment, Health Care - statistics & numerical data; Patients; Public Health and Epidemiology/Preventive Medicine; Public Health and Epidemiology/Screening; Questionnaires; Receptors, LDL - genetics; Screening; Studies; Surveys; Surveys and Questionnaires; Therapy; Time Factors; Young Adult; Netherlands; Lebanon
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0009220

The risk of premature cardiovascular disease in patients with familial hypercholesterolemia (FH) can be profoundly reduced by cholesterol-lowering therapy, and current guidelines for FH advocate ambitious low-density lipoprotein cholesterol (LDL-C) goals. In the present study, we determined whether these goals are reflected in current clinical practice once FH has been diagnosed. In 2008, we sent questionnaires to all subjects (aged 18-65 years) who were molecularly diagnosed with FH in the year 2006 through the screening program in The Netherlands. Of these 1062 subjects, 781 completed the questionnaire (46% males; mean age: 42+/-12 years; mean LDL-C at molecular diagnosis (baseline): 4.1+/-1.3 mmol/L). The number of persons that used cholesterol-lowering therapy increased from 397 (51%) at baseline to 636 (81%) after diagnosis. Mean treated LDL-C levels decreased significantly to 3.2+/-1.1 mmol/L two years after diagnosis. Only 22% achieved the LDL-C target level of < or = 2.5 mmol/L. The proportion of patients using cholesterol-lowering medication was significantly increased after FH diagnosis through genetic cascade screening. The attained LDL-C levels were lower than those reported in previous surveys on medication use in FH, which could reflect the effect of more stringent lipid target levels. However, only a minority of the medication users reached the LDL-C target.