Causes and Natural History of Dyslipidemias
- Conditions
- HypercholesterolemiaAtherosclerosis
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 2000
INCLUSION CRITERIA:<br><br> - Children >= 2 years of age and >12 kg and adults<br><br> - Dyslipidemia subjects of interest the group<br><br>The following is a representative list of the types of patient presentations with<br>dyslipidemia and potential diagnoses eligible for this protocol:<br><br> - Plasma cholesterol levels >200 mg/dl or <120 mg/dl includes patients with diagnoses<br> such as familial hypercholesterolemia, familial combined hyperlipidemia,<br> sitosterolemia, lipoprotein lipase, hepatic lipase or apo-CII deficiency, and<br> dysbetalipoproteinemia.<br><br> - Plasma LDL-C levels >130 mg/dl or <70 mg/dl includes patients with diagnoses such as<br> familial hypercholesterolemia, PCSK9, apo3500, familial combined hyperlipidemia,<br> sitosterolemia, dysbetalipoproteinemia, abetalipoproteinemia and<br> hypobetalipoproteinemia.<br><br> - Plasma HDL-C levels >70 mg/dl or <25 mg/dl includes patients with deficiency of<br> cholesteryl ester transfer protein, lecithin cholesterol acyltransferase,<br> phospholipid transfer protein, lipoprotein lipase, hepatic lipase, or apo-CII,<br> ANGPTL3, and Tangier disease.<br><br> - Plasma triglyceride levels >150 mg/dl includes patients with deficiency of<br> lipoprotein lipase, hepatic lipase or apoC-II, GPIHBP1, LMF1,<br> dysbetalipoproteinemia, Type I, Type IV and Type V hyperlipidemia.
Not provided
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method permit a full evaluation of the lipoproteins, apolipoproteins, and cellular enzymes and receptors relevant to lipoprotein metabolism in order to accurately diagnose and treat patients with potential genetic defects in these processes
- Secondary Outcome Measures
Name Time Method