Skill Checkup: A 43-Year-Old Man With a History of Smoking and Current Pressure in the Middle of the Chest and Dyspnea

Romesh Khardori, MD, PhD, FACP


January 12, 2022

To further investigate whether this patient has FLDB, genetic testing should be performed. In this case, the results of the patient's genetic testing do not come back with an identifiable mutation.

Although LDL receptor analysis can be used to identify the specific LDL receptor defect, this an expensive approach that can only be performed at selected research laboratories. The results do not influence treatment decisions. LDL receptor or apolipoprotein B-100 studies, however, can help distinguish familial defective apolipoprotein B-100 from familial hypercholesterolemia, though these results would also not change management.

Biopsy of xanthomas and xanthelasmas can be helpful when the diagnosis is unclear. Xanthelasmas and xanthomas in the setting of familial hypercholesterolemia will contain accumulated cholesterol, whereas eruptive xanthomas in patients with hypertriglyceridemia will contain triglycerides.

Lipoprotein electrophoresis is expensive and is unnecessary in this workup approach.


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