Familial dysbetalipoproteinemia is caused by a gene defect that results in an accumulation of large lipoprotein particles that contain both cholesterol and triglyceride. The disease is usually not evident by elevated blood levels or symptoms until the age of 20 or later. Atherosclerosis develops in the coronary arteries, internal carotid arteries that supply blood to the brain, and the abdominal aorta and its branches. The condition predisposes people to coronary artery disease and peripheral vascular disease . The condition is worsened by hypothyroidism , obesity , or diabetes mellitus .
Risk factors are a family history of familial dysbetalipoproteinemia or coronary artery disease.
The incidence is 1 out of 10,000 people. Screening for family members of people with familial dysbetalipoproteinemia may lead to early detection and treatment. Yellow deposits of fatty material in the skin called xanthomas may appear on the palm of the hand, sole of the foot, or on tendons of knees and elbows, and on the eyelids. The restriction of excess calories and the reduction of saturated fats and cholesterol should significantly reduce cholesterol levels . If high cholesterol and triglyceride levels persist with maximum dietary treatment, cholesterol lowering agents should be started.