This study is currently recruiting participants.
Number
03-H-0280
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Years Max Age: 100 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Triglyceride; Phospholipids; Free and Esterfied Cholesterol; Polydisperse; Lipoprotein Transport System; Natural History
Recruitment Keyword(s)
Condition(s)
Hypercholesterolemia; Atherosclerosis
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Heart, Lung, and Blood Institute
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.
- Fat biopsy. A small sample of fat tissue is collected for examination. For this test, an area on the buttock or abdominal wall is numbed. A needle is inserted into the fat, and a small amount of tissue is sucked out by a syringe.
- Leukapheresis. White blood cells are collected to help diagnose the lipid disorder. For this test, blood is collected through a needle in an arm vein, similar to donating blood. The blood circulates through a machine that separates it into its components, and the white cells are removed. The rest of the blood is returned to the body, either through the same needle or through another needle in the other arm.
- Skin biopsy. Skin cells are collected for study. The cells are grown in the laboratory and the amount of cholesterol that enters or leaves the cells is measured, providing information on abnormalities in cholesterol transport. For this test, an area of skin is numbed with an anesthetic and a small circular area is removed, using a skin punch instrument similar to a sharp cookie cutter.
- Heparin infusion study. Heparin, a blood thinner, releases enzymes that break down fat in the blood. Lipase activity (breakdown of fats) in the blood is measured following the injection of heparin into a vein.
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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.
- 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.
Principal Investigator
Referral Contact
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