Letters to the Editor

In Reply: Familial hypercholesterolemia: Clarifications

Nishant P. Shah, MD,FACC, Haitham M. Ahmed, MD and W. H. Wilson Tang, MD
Cleveland Clinic Journal of Medicine June 2020, 87 (6) 320; DOI: https://doi.org/10.3949/ccjm.87c.06002

We thank Dr. Modarressi for bringing up those points, and we are grateful the review was found to be informative.1

We agree that, although tendon xanthomas are pathognomonic for familial hypercholesterolemia (FH), xanthelasmas are not. Xanthelasmas are rich cholesterol deposits in the skin of the eyelids that occur in the setting of hypercholesterolemia.2 They are nonspecific, but can be seen in patients with FH because these patients often have extreme hypercholesterolemia. Therefore, we suggest in the article that xanthelasmas could be present in patients with FH as a physical finding, and we specifically state that xanthomas are the pathognomonic lesions. To the same effect, it is also possible to see a patient with FH without xanthomas or xanthelasmas.

We also agree with Dr. Modarressi that the low-density lipoprotein cholesterol goal of less than 55 mg/ dL was based on the 2017 American Association of Clinical Endocrinologists/American College of Endocrinology guideline recommendations (reference 66).3

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