A 31-year-old Caucasian female presents to your office for routine check-up. You notice several subcutaneous bumps that seem to be attached to Achilles tendons. Her father died from a heart attack at 35 years old and her mother suffers from rheumatoid arthritis. Her aunt was diagnosed with colon cancer while 55 years old. Which of the following is the best initial test in this patient?

Question

A 31-year-old Caucasian female presents to your office for routine check-up.  You notice several subcutaneous bumps that seem to be attached to Achilles tendons.  Her father died from a heart attack at 35 years old and her mother suffers from rheumatoid arthritis.  Her aunt was diagnosed with colon cancer while 55 years old.  Which of the following is the best initial test in this patient?

Quizplus · Accepted Answer

Typically associated with hyperlipidemia or lymphoproliferative malignancies, xanthomas are yellow nodules composed of lipid-laden histiocytes in the dermis. Clinically, xanthomas can be divided into five categories: eruptive xanthomas (yellow papules that abruptly appear when plasma triglycerides and lipids increase); tuberous and tendinous xanthomas (the latter are often present on Achilles tendons and the extensor tendons of the fingers); plane xanthomas (linear lesions in skin folds that are strongly associated with primary biliary cirrhosis); and xanthelasma (soft eyelid or periorbital plaques with no associated lipid abnormalities in 50% of affected individuals). Histologically, xanthomas are composed of benign macrophages packed with finely vacuolated, "foamy" cytoplasm. This cytoplasm contains high levels of cholesterol, phospholipids, and triglycerides. The lipid-laden macrophages are frequently also enclosed by inflammatory cells and fibrotic stroma. With xanthelasmas, the small aggregates of dermal foam cells are present without any surrounding inflammation or fibrosis. (Choice B) Fasting blood glucose would be appropriate to evaluate in patients suspected of having diabetes mellitus or other glucose metabolic abnormalities. (Choice C) Rheumatoid factor would be appropriate to evaluate in patients suspected of having rheumatoid arthritis. (Choice D) Antinuclear antibodies would be appropriate to evaluate in patients suspected of having autoimmune diseases such as systemic lupus erythematosus. (Choice E) Fecal occult blood test would be appropriate to evaluate in patients suspected of having bleeding of the gastrointestinal tract. Educational Objective: Xanthomas are suggestive of hyperlipidemia, especially when present in conjunction with a family history of early cardiac death.

A 31-Year-Old Caucasian Female Presents to Your Office for Routine