Details for the study
Brief Title
Evaluation of Lipoproteins
Official Title
Teaching Protocol for the Evaluation of Plasma Lipoproteins
Brief Summary
Lipoproteins are particles that carry fats such as cholesterol and triglycerides through the
<br /> blood stream. These particles are involved in causing blood vessel disease that can lead to
<br /> conditions like hardening of the arteries (atherosclerosis) or heart attacks (myocardial
<br /> infarctions).
<br />
<br /> This study is designed to look closely at the factors affecting lipoproteins. Researchers
<br /> plan to study patients and normal volunteers by measuring lipoprotein levels in the blood.
<br /> Patients and volunteers will be placed on a balanced diet during the study. In addition,
<br /> researchers plan to measure levels of various hormone and enzymes in the blood. Patients and
<br /> volunteers participating in the study may be asked to undergo more specific tests in order to
<br /> collect more information about lipoprotein metabolism.
<br />
<br /> This study may not provide direct benefits to patients and volunteers participating in it.
<br /> However, information gathered from this study may help researchers develop better skills and
<br /> techniques to diagnose and treat patients with diseases of lipoprotein metabolism.
Detailed Description
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.
Outcome Measures
Outcome measures are the tests that investigators perform to prove whether or not a treatment being tested in a clinical trial is having any effect.
Primary
screening and evaluation of individuals with potential disorders of lipid metabolism in order to provide training for professional Lipid Service staff in the evaluation and treatment of patients with genetic dyslipoproteinemias.
Eligible
Secondary
Some of these patients may be candidates for enrollment in other Lipid Service research protocols.
Some of these patients may be candidates for enrollment in other Lipid Service research protocols.
Study Criteria
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 dysbetalipoproteinemia.
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
disease.
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
hyperlipidemia.
EXCLUSION CRITERIA:
Inability to provide informed consent.
