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Physical Findings in Lipid Disorders 1. Lipemia retinalis is a rare physical finding which happens with severe hypertriglyceridemia (usually with triglyceride level greater than 2000mg/dL). It was originally described in Familial Chylomicronemia. It is characterized by white discoloration of the retinal vessels seen when the eyes are examined with a ophthalmoscope. Typically, lipemia retinalis is asymptomatic and doesn’t cause vision changes; however it can reflect the risk of acute pancreatitis. This condition is reversible if the triglyceride level is reduced. 2. Eruptive xanthomas are small bumps with yellowish tips and dark pink bases that appear mainly over the chest, shoulders, buttocks, and extensor surfaces of the upper limbs. It is associated with very high triglyceride levels (triglyceride level greater than 2000mg/dL), that occur in conditions such as in Familial Hypertriglyceridemia and Familial Chylomicronemia. The bumps resolve completely after lowering the triglyceride level, but may cause permanent darkening of the skin in those affected areas. 3. Tendon xanthomas are nodular accumulations of cholesterol that occur in genetic disorders associated with severely elevated low density lipoprotein cholesterol (LDL-C). It appears most commonly in patients with Familial Hypercholesterolemia, and Familial Defective Apo B-100, but also can appear in Beta Sitosterolemia. The Achilles tendon is the most common site, however cholesterol can deposit in other extensor tendons in the hands and feet. Achilles tendon xanthomas can sometimes be tender and can be diagnosed by palpating the Achilles tendon, but the diagnosis can be confirmed by biopsy. Management focuses on treating underlying hypercholesterolemia and improvement can occur with intensive therapy. 4. Xanthelasma are yellow plaques that usually occur near the inner part of the eyelids. They are associated with abnormal lipid levels and may not go away after treatment. Patients are often concerned by their appearance. 5. Corneal arcus is an eye condition characterized by grayish clouding in the cornea. It presents in Familial Hypercholesterolemia, Familial Defective Apo B-100 and Dysbetalipoproteinemia. It appears before the age of 50, and should be distinguished from the arcus that can occur with advanced age; in this case it is called “arcus senilis” and may not be associated with high LDL-C. 6. Tangier’s tonsils are enlarged orange color tonsils that appear in patients with Tangier disease (defective ABCA1). It occurs due to accumulation of cholesterol in the reticuloendothelial tissues. Patients with Tangier disease have very low levels of high density lipoprotein cholesterol (HDL-C usually less than 5mg/dL). 7. Palmar xanthomas are yellowish lesions that can look like bumps or lines found in the creases of the palms. This is found in Dysbetalipoproteinemia. Very low-density lipoprotein (VLDL-C) is elevated and the patient usually has very high triglycerides and total cholesterol. Dysbetalipoproteinemia increases the risk for atherosclerosis. 8. Tuberous xanthomas are non-tender nodules which appear usually in pressure areas such as the elbows and knees. They are associated most commonly with autosomal dominant hypercholesterolemias and also with Beta Sitosterolemia. Management focuses on treating underlying hypercholesterolemia, and they can improve with intensive therapy. —Bashar Ababneh, MD —Vanessa Milne, MS, NP * Special thanks go to Paul Hopkins, MD, for allowing us to publish his FH photos. Name:_______________________________ Date:___________ Health Care Provider:________________________________ Medications Recommended:_________________________________________________________ Provided by the National Lipid Association 6816 Southpoint Pkwy., Ste. 1000 • Jacksonville, FL 32216 • www.learnyourlipids.com Health Care Providers—access this tear sheet at www.learnyourlipids.com