Causes and Natural History of Dyslipidemias

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Jul 18, 2006

Keywords

ClinConnect Summary

This clinical trial, titled "Causes and Natural History of Dyslipidemias," is focused on understanding disorders that affect the levels of fats, like cholesterol and triglycerides, in the blood. These conditions can lead to serious health issues, such as hardening of the arteries (atherosclerosis) and heart attacks. The study is looking for participants who have specific cholesterol levels or other indicators of lipid disorders. To be eligible, you must be at least 2 years old and weigh over 12 kg, and you should have certain lipid abnormalities, such as high cholesterol or specific skin cholesterol deposits.

If you join the study, you will undergo various tests to evaluate your condition. These tests might include taking samples of your blood and fat tissue, as well as examining skin cells. One of the tests involves collecting white blood cells to help with diagnosis. While some procedures might sound a bit uncomfortable, they are all performed with care to ensure your safety. The information gathered from these tests will help researchers better understand dyslipidemias and improve treatment options for those affected.

Gender

ALL

Eligibility criteria

• * 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.