Review Question - QID 100578

Figure A shows xanthelasmas, a type of xanthoma that are found on the medial eye lid, often resulting from a primary or secondary hyperlipidemia or dyslipidemia, an extremely concerning finding in a patient so young. LDL cholesterol, total cholesterol, HDL cholesterol, and TG must be assessed.

Xanthomas are accumulations of macrophages with abundant, finely vacuolated cytoplasm filled with cholesterol, phospholipids, and triglycerides. They result from primary or secondary hyperlipidemia or dyslipidemia, often a result of an LDL receptor abnormality. For a patient in her 30s to develop xanthomas, one must be highly suspicious of familial hypercholesterolemia (FH). Familial hypercholesterolemia (FH) is often caused by a mutation in the LDL receptor resulting in inadequate removal of LDL from the circulation, subsequently low intrahepatic cholesterol levels, and ultimately inappropriately exaggerated endogenous hepatic cholesterol production.

Figure A shows bilateral xanthelasmas.

Incorrect Answers:
Answer 1: There is no reason to suspect pregnancy in a woman whose last menstrual period was 6 days ago and normal.
Answer 2: This woman reports no history of symptoms of hypothyroidism. However, hypothyroidism can be a cause of secondary hyperlipidemia. If her lipids turn out to be abnormal, one would screen for thyroid abnormalities.
Answer 3: There is no indication for checking FSH in this woman. She is menstruating normally and with only 3 months of unsuccessful conception, the couple does not yet meet criteria for infertility (12 months). There is no relationship between FH and infertility.
Answer 5: The USPSTF recommends screening for type 2 diabetes in asymptomatic adults with sustained blood pressure greater than 135/80 mm Hg. This woman has no symptoms and a normal blood pressure. If her lipids turn out to be abnormal, one would screen for other cardiovascular risk factors.