Lipoproteins are particles that carry fats such as cholesterol and triglycerides through the
blood stream. These particles are involved in causing blood vessel disease that can lead to
conditions like hardening of the arteries (atherosclerosis) or heart attacks (myocardial
This study is designed to look closely at the factors affecting lipoproteins. Researchers
plan to study patients and normal volunteers by measuring lipoprotein levels in the blood.
Patients and volunteers will be placed on a balanced diet during the study. In addition,
researchers plan to measure levels of various hormone and enzymes in the blood. Patients and
volunteers participating in the study may be asked to undergo more specific tests in order
to collect more information about lipoprotein metabolism.
This study may not provide direct benefits to patients and volunteers participating in it.
However, information gathered from this study may help researchers develop better skills and
techniques to diagnose and treat patients with diseases of lipoprotein metabolism.
The lipoprotein transport system is vital to the delivery of the hydrophobic fats that are
carried in the aqueous environment of the blood. The lipoprotein particles that comprise
this system are polydisperse and contain triglycerides, free and esterified cholesterol,
phospholipids and proteins. Inborn errors in the lipoprotein transport system lead to
alterations in both the steady state concentrations of the various lipoproteins and in the
metabolism of these particles. These inborn errors lead to both hyperlipoproteinemia and
hypolipoproteinemia. Profound changes in the ambient lipoprotein concentrations have a
variety of clinical manifestations. The present study protocol is designed to permit a full
evaluation of the lipids, lipoproteins, and apolipoproteins, in patients with potential
genetic defects in these processes. The protocol will also permit training of students,
staff clinicians, physician assistants, nurse practitioners, dieticians and post-doctoral
fellows in the evaluation and treatment of patients with dyslipidemias. The study population
will include patients which are referred to the Lipid Service from private care providers,
academic institutions, or the NHLBI Lipid website, with any of the following potential lipid
abnormalities or clinical stigmata associated with dyslipoproteinemias: a) increased plasma
levels of cholesterol, triglycerides, HDL-cholesterol or LDL-cholesterol b) decreased plasma
concentrations of cholesterol and HDL-cholesterol c) postprandial hyperlipidemia or d)
eruptive xanthomas, xanthelasma, tuberous or tendinous xanthomas, or corneal opacities.
- INCLUSION CRITERIA:
Plasma cholesterol levels greater than 200 mg/dl or less than 120 mg/dl - includes
patients with diagnoses such as familial hypercholesterolemia, familial combined
hyperlipidemia, sitosterolemia, cholesteryl ester storage disease, Erdheim chester
disease, lipoprotein lipase, hepatic lipase or apo-CII deficiency, and
Plasma LDL-C levels greater than 130 mg/dl or less than 70 mg/dl - includes patients with
diagnoses such as familial hypercholesterolemia, familial combined hyperlipidemia,
lipoprotein lipase, hepatic lipase, or apo-CII deficiency, sitosterolemia,
dysbetalipoproteinemia, abetalipoproteinemia and hypobetalipoproteinemia.
Plasma HDL-C levels greater than 70 mg/dl or less than 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, and Tangier
Plasma triglyceride levels greater than 150 mg/dl - includes patients with deficiency of
lipoprotein lipase, hepatic lipase or apoC-II, dysbetalipoproteinemia, Type IV and Type V
Inability to provide informed consent.