Related Experiment Video

Updated: Jul 10, 2026

Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation
06:47

Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation

Published on: January 28, 2021

Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia

E Meriño-Ibarra1, J Puzo, E Jarauta

  • 1Lipid Unit and Molecular Research Laboratory, Hospital Universitario Miguel Servet, Instituto Aragonés de Ciencias de la Salud, Avda Isabel La Católica 1-3, 50009, Zaragoza, Spain.

Journal of Inherited Metabolic Disease
|October 24, 2007
PubMed

Insights

Elevated lipoprotein(a) (Lp(a)) is a cause of autosomal dominant hypercholesterolaemia (ADH) in about 6% of patients without LDLR or APOB mutations. High Lp(a) does not appear to increase early-onset coronary heart disease risk in ADH patients.

Area of Science:

  • Cardiovascular Genetics
  • Lipid Metabolism Disorders
  • Monogenic Diseases

Background:

  • Autosomal dominant hypercholesterolaemia (ADH) comprises a group of monogenic lipid disorders.
  • Elevated plasma lipoprotein(a) (Lp(a)) is a heritable trait linked to increased coronary heart disease (CHD) risk.

Purpose of the Study:

  • To determine the frequency of elevated Lp(a) as a cause of ADH.
  • To characterize individuals with high Lp(a) (hyperLp(a)) within the ADH population.

Main Methods:

  • Screened 933 Spanish ADH patients for LDLR and APOB mutations, alongside 200 controls.
  • Assessed cardiovascular risk factors, lipid levels, and Lp(a) concentrations.
  • Defined hyperLp(a) as Lp(a) levels at or above the 95th percentile of control values.

Main Results:

  • Lp(a) levels were significantly higher in ADH subjects without LDLR/APOB mutations compared to those with mutations (40.0 mg/dl vs. 31.0 mg/dl).
  • HyperLp(a) was found in 23% of ADH subjects and 29% of nonLDLR/nonAPOB subjects, indicating a higher prevalence in this subgroup.
  • After adjusting for Lp(a), LDL cholesterol levels below the 95th centile were observed in 10.6% of nonLDLR/nonAPOB subjects and 1.3% of FH subjects.

Conclusions:

  • Elevated Lp(a) accounts for ADH in approximately 6% of individuals lacking LDLR or APOB mutations.
  • HyperLp(a) does not appear to be an independent risk factor for early-onset CHD in ADH patients, regardless of identified genetic defects.
Abstract

More Related Videos

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

Related Concept Videos

Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
Lipid-Lowering Drugs: Statins and Miscellaneous Agents01:20

Lipid-Lowering Drugs: Statins and Miscellaneous Agents

Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
Blood Studies for Cardiovascular System III: Serum Lipid Profile01:25

Blood Studies for Cardiovascular System III: Serum Lipid Profile

Understanding serum lipids is crucial for maintaining cardiovascular health and preventing heart disease and stroke.
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
Overview of Fatty Acid Metabolism01:28

Overview of Fatty Acid Metabolism

Lipids also are sources of energy that power cellular processes. Like carbohydrates, lipids are composed of carbon, hydrogen, and oxygen, but these atoms are arranged differently. Most lipids are nonpolar and hydrophobic. Major types include fats and oils, waxes, phospholipids, and steroids.
Fatty acids are catabolized in a process called beta-oxidation, which takes place in the matrix of the mitochondria and converts their fatty acid chains into two-carbon units of acetyl groups. The acetyl...
Lipids: Dietary Sources and Requirements01:18

Lipids: Dietary Sources and Requirements

Lipids are an essential component of a balanced human diet. Triglycerides, which make up the majority of dietary lipids, are found in both saturated fats—commonly present in meat, dairy products, and certain tropical plants like coconut, and hydrogenated oils such as margarine and baking shortenings (trans fats)—and unsaturated fats, which are abundant in seeds, nuts, olive oil, and most vegetable oils. The main sources of cholesterol include egg yolks, various meats and organ meats, shellfish,...
Overview of Lipid Metabolism01:24

Overview of Lipid Metabolism

Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...