Hyperlipoproteinemia Type III, also known as familial dysbetalipoproteinemia, is a genetic disorder characterized by abnormal lipid metabolism. It is a rare and autosomal recessive condition that affects the way the body processes fats and cholesterol. This disorder involves elevated levels of cholesterol-rich lipoproteins called chylomicron remnants and intermediate density lipoproteins (IDLs).
In individuals with Hyperlipoproteinemia Type III, the liver is unable to efficiently remove chylomicron remnants and IDLs from the bloodstream. Consequently, these lipoproteins accumulate and lead to increased levels of cholesterol, triglycerides, and fatty substances in the blood.
This condition predisposes affected individuals to the development of atherosclerosis, which is the buildup of fatty deposits in the arteries. Over time, this can result in the narrowing and hardening of the arteries, ultimately leading to cardiovascular complications such as heart attacks, strokes, or peripheral vascular disease.
Symptoms of Hyperlipoproteinemia Type III may include the development of xanthomas, which are fatty deposits under the skin, particularly around the eyes and elbows. Other signs may involve the presence of cholesterol deposits in the tendons, such as Achilles tendon xanthomas. Some individuals may also experience abdominal pain, pancreatitis, or lipid metabolism disorders.
The diagnosis can be confirmed through lipid blood tests that reveal high levels of cholesterol, triglycerides, and lipoproteins. Genetic testing may also be conducted to identify mutations in specific genes associated with this disorder.
Management of Hyperlipoproteinemia Type III typically involves lifestyle modifications, including a low-fat diet, regular exercise, weight management, and abstaining from smoking. Medications such as statins and fibrates may also be prescribed to control lipid levels and
