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What’s hyperlipoproteinemia?

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Hyperlipoproteinemia is a genetic disorder causing high levels of lipoproteins in the blood, leading to atherosclerosis and xanthelasma. There are five types, with varying levels of severity, and it is often treated with medication and lifestyle changes.

Hyperlipoproteinemia, also known as familial hyperlipoproteinemia, is a metabolic disorder that causes high amounts of lipoproteins in the blood. It is a genetic disorder usually seen in older individuals but can also occur in children and younger adults. Lipoproteins are compounds in the body containing proteins and lipids, or fats, that carry cholesterol and triglycerides through the bloodstream. Examples of lipoproteins are low-density lipoprotein (LDL), high-density lipoprotein (HDL), chylomicrons, intermediate-density lipoprotein (IDL), and very low-density lipoprotein (VLDL).

There are five forms of hyperlipoproteinemia. The severity of the disorder usually depends on the type and type of elevated lipoproteins. A common symptom of hyperlipoproteinemia is the development of xanthelasma, or the presence of fatty deposits in the upper eyelids. Atherosclerosis, hardening and narrowing of blood vessels may also occur due to the deposition of fat or lipids on the vessel walls. If not treated early, the disease can lead to heart attack or stroke.

The first type of hyperlipoproteinemia is known as familial hyperchylomicronemia syndrome. It is often characterized by the predominant elevation of blood chylomicrons. Chylomicrons are carriers of cholesterol and triglycerides in the small intestine to other body tissues. Type II is called hypercholesterolemia and is mostly seen in patients with high blood cholesterol and LDL levels. LDL is also called bad cholesterol, as it often indicates the presence of heart problems, such as high blood pressure or hypertension.

Type III hyperlipoproteinemia presents with elevated concentrations of chylomicrons as well as elevated amounts of IDL in the blood. IDLs are formed from the breakdown of LDLs in circulation. Type IV is called hyperglyceridemia and indicates high levels of triglycerides in the blood, while type V is characterized by high concentrations of VLDL. VLDL are lipoproteins that are converted to LDL in the circulation. Acquired forms of hyperlipoproteinemia are often due to hypothyroidism, uncontrolled diabetes mellitus, kidney problems, and pancreatitis.

A lipid profile test, which measures the amount of total cholesterol, triglycerides, HDL, and LDL in the blood, is often needed to diagnose hyperlipoproteinemia. Cardiologists, doctors who specialize in heart and blood vessel problems, usually treat the disease with drugs known to lower levels of lipoproteins, cholesterol, and triglycerides in the body. They also often advise patients to reduce weight, quit smoking, eat a healthy low-fat diet, and follow a regular exercise regimen. These are often necessary measures to prevent further complications.

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