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  • Title: NLA Symposium screening and treatment of familial hypercholesterolemia: how can we do better? Opening and introductions.
    Author: McGowan M.
    Journal: J Clin Lipidol; 2010; 4(5):335-7. PubMed ID: 21122673.
    Abstract:
    Heterozygous familial hypercholesterolemia is an autosomal dominant disorder characterized by half the normal number of low density lipoprotein (LDL) receptors and markedly elevated LDL cholesterol levels. FH is a very common disorder, affecting about one in 500 in the general population and occurring more frequently in certain ethnic groups. Untreated, roughly 50% of men and 25% of women who have FH will have had their first myocardial infarction or other cardiovascular event by the age of 50. Since roughly half of an affected individual's first degree relatives will also have FH, Cascade Screening represents an important tool for patient identification. Although treating FH represents a clinical challenge, most affected patients can be managed with currently available treatment modalities including statins, resins, cholesterol absorption inhibitors, and niacin. LDL apheresis is an option for individuals who fail currently available oral prescription therapies. And mipomersen is an antisense therapy designed to inhibit apolipoprotein B (apo B) synthesis. This agent is currently being studied in FH patients who fail to achieve target LDL cholesterol levels with the aforementioned prescription therapies.
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