Primary Hyperlipidemia
What is Primary Hyperlipidemia?
Primary hyperlipidemia (also known as type II hyperlipoproteinemia) is a disorder characterized by a marked elevation of circulating blood lipids, mainly low-density lipoprotein (LDL) cholesterol and triglycerides. It is caused by an abnormal increase in the production or inadequate elimination of blood lipids, and is associated with an increased risk for cardiovascular disease. Other features of primary hyperlipidemia include abnormal lipid metabolism, and changes in the structure and composition of lipoproteins.
Primary hyperlipidemia is typically inherited and is the result of genetic mutations that affect enzymes involved in lipid metabolism, including lipoprotein lipase (LPL), estrogenic receptor (ER) recognized lipase (ER-Lip) and peroxisomal fatty acid oxidation enzymes.
Signs and Symptoms of Primary Hyperlipidemia
The signs and symptoms of primary hyperlipidemia are varied and can be related to specific types of lipid disorders. Common symptoms of primary hyperlipidemia are:
- Elevated levels of triglycerides and low-density lipoprotein (LDL) cholesterol
- Enlarged or tender liver
- Fatty deposits seen around eyes and elsewhere on the body
- Depression and mood swings
- Muscle pain and weakness
- Disordered fat metabolism
- Insulin resistance
Diagnosis of Primary Hyperlipidemia
Primary hyperlipidemia can be diagnosed by measuring levels of various lipids, including triglycerides, LDL cholesterol and HDL cholesterol. Additionally, other tests may be used to evaluate for underlying causes, such as a liver biopsy to measure liver enzyme levels, genetic testing or an endocrine evaluation to measure levels of hormones such as insulin.
Treatment of Primary Hyperlipidemia
Treatment of primary hyperlipidemia depends on the underlying cause, severity and risk factors for developing cardiovascular disease. Generally, lifestyle changes, including dietary modifications, increased physical activity, weight loss and smoking cessation, can all be used to reduce LDL cholesterol and triglyceride levels. Additionally, medications can be used, such as statins, fibrates, bile acid sequestrants and cholesterol absorption inhibitors. Lastly, surgery or angioplasty may be used to treat very severe forms of primary hyperlipidemia.