Xanthelasmas in a young patient may be indicative of familial hypercholesterolemia. A lipid panel should be checked.
Xanthelasmas may be associated with primary biliary cirrhosis and familial hypercholesterolemia. Xanthelasmas are yellow plaques on the medial aspects of the eyelids and are commonly bilateral. Each lesion is filled with lipid-laden histiocytes. While xanthomas that appear on the eye are called xanthelasmas, those that appear on the Achilles are called tendinous xanthomas. Another example of physical examination findings that suggest hyperlipidemia are a corneal arcus, or lipid deposited in the cornea. Recall that in familial hypercholesterolemia, patients have elevated LDL due to a defective or absent LDL receptor. Heterozygotes have cholesterol in the range of 300 mg/DL, while homozygotes have levels above 700. These patients are at risk of severe atherosclerosis early in life.
Safeer and Lacivita discuss choosing drug therapy for patients with hyperlipidemia. Almost 13 million Americans require drugs to lower their cholesterol. Statins are the most commonly prescribed lipid-lowering agents because of their efficacy and tolerability. Studies have demonstrated that statins not only lower LDL levels but also decrease coronary events and overall mortality. Fibrates are the most effective agents in lowering triglyceride levels but are not as effective in lowering LDL.
Hovingh et al. discuss diagnosis and treatment of familial hypercholesterolemia. This autosomal dominant disorder is characterized by elevated levels of LDL, and early diagnosis is important to prevent morbidity and mortality. While clinical characteristics such as family history and cholesterol levels often provide the diagnosis, genetic testing may confirm the diagnosis. Statins are the current standard treatment. New agents under investigation include inhibitors of apolipoprotein B.
Image A depicts the classic appearance of a xanthelasma.
Illustration A depicts a corneal arcus (arcus senilis).
Answer 1: Mohs surgery would be indicated for basal cell or squamous cell carcinoma, yet these lesions do not have a malignant appearance consistent with these diseases.
Answer 3: Anti-topoisomerase antibodies are associated with diffuse systemic scleroderma. Anti-mitochondrial antibodies may be ordered as they are associated with primary biliary cirrhosis, which may cause xanthelasmas.
Answer 4: Anti-transglutaminase antibodies are associated with Celiac disease. Anti-mitochondrial antibodies may be ordered as they are associated with primary biliary cirrhosis, which may cause xanthelasmas.
Answer 5: Providing reassurance alone and referral for removal is not sufficient as these lesions could represent a serious chronic condition which requires treatment.
Safeer RS, Lacivita CL. Choosing drug therapy for patients with hyperlipidemia. Am Fam Physician. 2000 Jun 1;61(11):3371-82.
PMID: 10865931 (Link to Abstract)
Hovingh GK, Davidson MH, Kastelein JJ, O'Connor AM. Diagnosis and treatment of familial hypercholesterolaemia. Eur Heart J. 2013 Apr;34(13):962-71. doi: 10.1093/eurheartj/eht015. Epub 2013 Feb 14.
PMID: 23416791 (Link to Abstract)