Clinical diagnosis of hyperlipoproteinemia

Specific physical findings are associated with the different phenotypes of hyperlipoproteinemia and may point up the need for further medical work-up to determine whether hyperlipoproteinemia is primary or secondary. The clinical manifestations of severe elevations in plasma lipid levels include xanthomas, which may be tendinous, tuberous, or eruptive. Xanthelasma is a common type of xanthoma that is seen in the creases of the eyelids. Other clinical manifestations of hyperlipoproteinemia include corneal arcus, lipemia retinalis, abdominal pain and pancreatitis. In patients with certain types of xanthoma whose serum cholesterol and triglyceride levels are normal, hyperlipoproteinemia has been diagnosed on the basis of abnormalities in plasma apoproteins and their subfractions.