Evaluation of Lipoproteins

Teaching Protocol for the Evaluation of Plasma Lipoproteins

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 infarctions).

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.

Study Overview

• Status: Completed
• Conditions: Evaluation of Plasma Lipoproteins
• Intervention / Treatment: Behavioral: Balanced diet

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.

• Study Type: Observational
• Enrollment (Actual): 1017

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

unlimited

Description

• INCLUSION CRITERIA:

The following is a representative list of the types of patient presentations and potential diagnoses eligible for this protocol:

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Dyslipidemia	Behavioral: Balanced diet; Dietary studies for the diagnosis of post-prandial hyperlipidemia will include a 3 week period while subjects are on a baseline, isoweight, 15% fat, 42% carbohydrate, normal polyunsaturated fat ratio (0.1-0.3) 250-300 mg cholesterol diet.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	Training for professional Lipid Service staff in the evaluation and treatment of patients with genetic dyslipoproteinemias	Six years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	six years

Collaborators and Investigators

• Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
• Investigators: Principal Investigator: Robert D Shamburek, M.D., National Heart, Lung, and Blood Institute (NHLBI)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 1979

Study Registration Dates

• First Submitted: November 3, 1999
• First Submitted That Met QC Criteria: November 3, 1999
• First Posted (Estimated): November 4, 1999

Study Record Updates

• Last Update Posted (Actual): May 22, 2026
• Last Update Submitted That Met QC Criteria: May 21, 2026
• Last Verified: August 19, 2025

More Information

Terms related to this study

• Keywords: Natural History; High Cholesterol; High HDL; Low HDL; LCAT Defiency; Type III Hyperlipoproteinemia; Plasma Lipoproteins
• Additional Relevant MeSH Terms: Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Lipid Metabolism, Inborn Errors; Hyperlipoproteinemias; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hypercholesterolemia; Hyperlipoproteinemia Type III
• Other Study ID Numbers: 790100; 79-H-0100

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No