Giant Gluteal Xanthomas
A 27-year-old man was being investigated for a possible diagnosis of familial hypercholesterolemia (total cholesterol, 480 mg/dL; low-density lipoprotein, 440 mg/dL; high-density lipoprotein, 25 mg/dL; triglycerides, 76 mg/dL on treatment). He had been diagnosed with acute inferior wall myocardial infarction at 24 years of age, and coronary angiography had revealed extensive triple-vessel disease.
On physical examination, he was detected to have extensive tendon and gluteal xanthomas (Figure 1). There were 13 xanthomatous swellings of various sizes measuring 2×2 to 14×8 cm in the gluteal region alone. Besides gluteal xanthomas, there were xanthomatous lesions in bilateral elbows (Figure 2), knees (Figure 3), and Achilles tendon (Figure 4). On family screening, all his family members (ie, parents and 3 siblings) were found to have ECG evidence of coronary artery disease. Notably, neither the patient nor any of his family members smoked or had diabetes mellitus, but all had clinical clues to suggest dyslipidemia.
Familial hypercholesterolemia associated with manifest clinical xanthomatous swellings is known to cause premature coronary artery disease. However, tendon xanthomas with giant gluteal xanthomas are a matter of clinical curiosity because of their peculiar location in the gluteal region (hitherto unreported) and are likely to be missed completely if not looked for diligently. The unusual size and site of xanthomas in one of the family members are matters of clinical curiosity.