Hyperlipoproteinemia Type III synonyms
What other names are the Hyperlipoproteinemia Type III known by? Synonyms and other terms with which Hyperlipoproteinemia Type III is known.
Hyperlipoproteinemia Type III, also known as dysbetalipoproteinemia or remnant hyperlipidemia, is a rare genetic disorder characterized by abnormal lipid metabolism. It is caused by a mutation in the gene encoding for apolipoprotein E (APOE), a protein involved in the transport and metabolism of cholesterol and triglycerides.
Individuals with Hyperlipoproteinemia Type III have elevated levels of cholesterol and triglycerides in their blood due to impaired clearance of remnants of very low-density lipoproteins (VLDL) and chylomicrons. These remnants accumulate in the bloodstream, leading to the formation of xanthomas, which are fatty deposits under the skin. Xanthomas typically appear on the palms, elbows, knees, and buttocks.
Hyperlipoproteinemia Type III is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated APOE gene, one from each parent. The condition is more common in individuals of certain ethnic backgrounds, such as individuals of European descent.
Common symptoms of Hyperlipoproteinemia Type III include xanthomas, yellowish discoloration of the skin, and lipid deposits in the eye (corneal arcus). Additionally, affected individuals may experience abdominal pain, pancreatitis, and cardiovascular complications such as atherosclerosis, which can increase the risk of heart disease and stroke.
Diagnosis of Hyperlipoproteinemia Type III involves a thorough clinical evaluation, including a physical examination, assessment of family history, and blood tests to measure lipid levels. Genetic testing can confirm the presence of the APOE gene mutation.
Treatment for Hyperlipoproteinemia Type III focuses on managing lipid levels and reducing the risk of cardiovascular complications. This typically involves a combination of lifestyle modifications and medication. Lifestyle changes may include adopting a heart-healthy diet, engaging in regular physical activity, maintaining a healthy weight, and avoiding smoking and excessive alcohol consumption. Medications such as statins and fibrates may be prescribed to help lower cholesterol and triglyceride levels.
Regular monitoring of lipid levels and cardiovascular health is essential for individuals with Hyperlipoproteinemia Type III. With proper management, individuals with this condition can lead relatively normal lives and reduce the risk of complications.
