Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

Background: Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high plasma cholestanol levels.

Objectives: Our objective was to review the diagnosis and treatment results in 43 CTX cases.

Methods: We conducted a careful review of the diagnosis, laboratory values, treatment, and clinical course in 43 CTX cases.

JCL roundtable: lipid-lowering drugs in those older than 75 years of age.

Using drugs in the elderly requires some special considerations; however, there is no question that our older patients benefit tremendously from the use of agents that prevent and/or control many of the risk factors for vascular disease that are most prevalent in the latter years of life. Recently, the American College of Cardiology and the American Heart Association issued guidelines for the management of blood cholesterol elevations. For the first time, little specific guidance was given for the age group older than 75 years of age.

Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

The familial hypercholesterolemias (FH) are a group of genetic defects resulting in severe elevations of blood cholesterol levels and increased risk of premature coronary heart disease. FH is among the most commonly occurring congenital metabolic disorders. FH is a treatable disease.

Role of low-density lipoprotein apheresis.

Low-density lipoprotein (LDL) apheresis has been shown to reduce plasma levels of total cholesterol, LDL cholesterol, and lipoprotein(a). In addition to these lipoprotein changes, LDL apheresis induces atherosclerosis regression, improves myocardial perfusion and endothelial function, and may reduce cardiovascular event rates.

Initial low-density lipoprotein response to statin therapy predicts subsequent low-density lipoprotein response to the addition of ezetimibe.

This small retrospective study confirms the hypothesis that patients who are hyporesponders to statin therapy are hyper-responders to ezetimibe therapy and may help identify a patient population in whom ezetimibe would be particularly effective in lowering low-density lipoprotein cholesterol.