RECRUITINGOBSERVATIONAL

Causes and Natural History of Dyslipidemias

Disease Pathogenesis and Natural History of Lipid Disorders

About This Trial

This study will evaluate people with dyslipidemias - disorders that affect the fat content in the blood. Fats, or lipids, such as cholesterol and triglycerides, are carried in the blood in particles called lipoproteins. These particles are involved in causing blood vessel diseases that can lead to conditions like atherosclerosis (hardening of the arteries) or heart attack. Participants will undergo accepted medical tests and procedures to evaluate their condition. Most of the test results are helpful in making a diagnosis and in guiding treatment. People with lipid disorders are eligible for this study. Representative types of patients include those with: * Plasma cholesterol levels greater than 200 mg/dl or less than 120 mg/dl * Plasma LDL-C levels greater than 130 mg/dl or less than 70 mg/dl * Plasma HDL-C levels greater than 70 mg/dl or less than 25 mg/dl * Unusual cholesterol deposits or xanthomas (nodules of lipid deposits on the skin) Children under 2 years of age are excluded from the study. Participants will undergo some or all of the following procedures: \- Plasma evaluation. Apolipoproteins (plasma proteins involved in metabolism of cholesterol, triglycerides, phospholipids, and proteins in the blood) and enzymes involved in lipid metabolism are measured....

Who May Be Eligible (Plain English)

* Who May Qualify: - Children \>= 2 years of age and \>12 kg and adults - Dyslipidemia subjects of interest the group The following is a representative list of the types of patient presentations with dyslipidemia and potential diagnoses eligible for this protocol: - Plasma cholesterol levels \>200 mg/dl or \<120 mg/dl includes patients with diagnoses such as familial hypercholesterolemia, familial combined hyperlipidemia, sitosterolemia, lipoprotein lipase, hepatic lipase or apo-CII deficiency, and dysbetalipoproteinemia. - Plasma LDL-C levels \>130 mg/dl or \<70 mg/dl includes patients with diagnoses such as familial hypercholesterolemia, PCSK9, apo3500, familial combined hyperlipidemia, sitosterolemia, dysbetalipoproteinemia, abetalipoproteinemia and hypobetalipoproteinemia. - Plasma HDL-C levels \>70 mg/dl or \<25 mg/dl includes patients with deficiency of cholesteryl ester transfer protein, lecithin cholesterol acyltransferase, phospholipid transfer protein, lipoprotein lipase, hepatic lipase, or apo-CII, ANGPTL3, and Tangier disease. - Plasma triglyceride levels \>150 mg/dl includes patients with deficiency of lipoprotein lipase, hepatic lipase or apoC-II, GPIHBP1, LMF1, dysbetalipoproteinemia, Type I, Type IV and Type V hyperlipidemia. Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

* INCLUSION CRITERIA: * Children \>= 2 years of age and \>12 kg and adults * Dyslipidemia subjects of interest the group The following is a representative list of the types of patient presentations with dyslipidemia and potential diagnoses eligible for this protocol: * Plasma cholesterol levels \>200 mg/dl or \<120 mg/dl includes patients with diagnoses such as familial hypercholesterolemia, familial combined hyperlipidemia, sitosterolemia, lipoprotein lipase, hepatic lipase or apo-CII deficiency, and dysbetalipoproteinemia. * Plasma LDL-C levels \>130 mg/dl or \<70 mg/dl includes patients with diagnoses such as familial hypercholesterolemia, PCSK9, apo3500, familial combined hyperlipidemia, sitosterolemia, dysbetalipoproteinemia, abetalipoproteinemia and hypobetalipoproteinemia. * Plasma HDL-C levels \>70 mg/dl or \<25 mg/dl includes patients with deficiency of cholesteryl ester transfer protein, lecithin cholesterol acyltransferase, phospholipid transfer protein, lipoprotein lipase, hepatic lipase, or apo-CII, ANGPTL3, and Tangier disease. * Plasma triglyceride levels \>150 mg/dl includes patients with deficiency of lipoprotein lipase, hepatic lipase or apoC-II, GPIHBP1, LMF1, dysbetalipoproteinemia, Type I, Type IV and Type V hyperlipidemia.

Locations (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States