Overview and Definition of Primary Hyperlipidemia

Primary hyperlipidemia is a dangerous health condition usually asymptomatic in its early stages. As a main symptom for a variety of diseases that cause high cholesterol, primary hyperlipidemia requires medical management to reduce the risk of coronary morbidity and mortality.

Primary hyperlipidemia overview

Hyperlipidemia is an umbrella term doctors use to describe several different conditions characterized by an excess of lipids in the blood. Hyperlipidemia is divisible into both primary and secondary types. Primary hyperlipidemia usually originates from genetic factors, and doctors sometimes refer to this group of diseases as familial hyperlipidemia. In contrast, secondary hyperlipidemia usually arises as a symptom of an underlying disorder, such as diabetes. The lipids present in too great a concentration in hyperlipidemia include cholesterol, phospholipids and triglycerides. Primary hyperlipidemia is a major, modifiable risk factor for a variety of serious health conditions, such as atherosclerosis and coronary heart disease.

Overview and Definition of Primary Hyperlipidemia

Causes of primary hyperlipidemia

Doctors usually consider primary hyperlipidemia a symptom of a wider disease rather than a disease itself. As such, a variety of different diagnoses include genetic components that cause primary hyperlipidemia. These include familial hypercholesterolemia, familial dysbetalipoproteinemia, familial defective Apo B100, Apo AI deficiency, autosomal recessive hypercholesterolemia, Tangier disease, Wolman disease, sitosterolemia, cholesteryl ester transfer protein deficiency and others. Primary hyperlipidemia is a primary symptom of each of these genetic disorders.


Familial combined hypercholesterolemia, the most common type of primary hyperlipidemia, occurs in around 500 out of every 100,000 people in the United States.

Diagnosis of primary hyperlipidemia

In general, primary hyperlipidemia is asymptomatic until the condition reaches very severe levels that far exceed the threshold for association with cardiovascular morbidity and mortality. Therefore, diagnosis typically occurs when individuals present for medical care for related morbidity. Classification of hyperlipidemia uses the Fredrickson system, which depends upon the examination of lipoproteins isolated with electrophoresis or ultracentrifugation. Each type and subtype within the Fredrickson system has unique features, including the responsible genetic defect, the elevated lipoprotein, typical symptoms and treatment.

Management of primary hyperlipidemia

Management and treatment of primary hyperlipidemia depend on the specific diagnosis associated with the symptom. Using the Fredrickson system, treatment of Type I hyperlipidemia with elevated chylomicrons involves simple diet control. Type II, associated with elevated low-density lipoprotein, typically known as bad cholesterol) and sometimes very low-density lipoprotein, requires prescription of medications, such as statins, bile acid sequestrants, niacin and fibrate. Type III, associated with elevated intermediate-density lipoprotein, involves treatment with statins and fibrate. Type IV, with elevated levels of very low-density lipoproteins, involves the prescription of statins, fibrate and niacin. Type V, associated with elevations in very low-density lipoprotein and chylomicrons, requires treatment with niacin and fibrate.

If individuals leave primary hyperlipidemia untreated, this health condition carries serious risks. In many cases, if you make simple lifestyle changes and take prescription medications, these measures are adequate for bringing your blood lipid levels into a healthier range.