The value of physical signs in identifying patients with familial hypercholesterolemia in the era of genetic testing.

Abstract

Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism characterized by very high plasma concentrations of low-density lipoprotein cholesterol. It is crucial to diagnose and treat this disorder early since if left untreated it increases the risk for coronary artery disease (CAD) at least by 10-fold. Although genetic testing for FH, when available and affordable, should ideally be offered to most individuals with clinical phenotype suggestive of FH, it is underutilized in most countries. Therefore, FH diagnosis in the majority of cases is made by combining cholesterol levels and clinical characteristics of the patient leaving the need for genetic testing usually in equivocal cases. The presence of some cutaneous and ocular signs can raise the suspicion or even lead to the diagnosis of FH among usually "healthy" individuals. These physical signs comprise cutaneous lesions such as tendon xanthomas or the less specific xanthelasmata and ocular signs, such as corneal arcus in individuals under the age of 45 years. The presence of these signs should prompt the physician to request lipid tests and use clinical scores to diagnose FH. If the diagnosis of FH is likely, aggressive lipid-lowering therapy should be initiated to reduce the risk of CAD and a cascade screening of family members should also be requested.

• Authors: Loukianos S Rallidis, Dimitrios Iordanidis, Efstathios Iliodromitis
• Journal: Journal of cardiology (J Cardiol) Vol. 76 Issue 6 Pg. 568-572 (12 2020) ISSN: 1876-4738 [Electronic] Netherlands
• PMID: 32741655 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2020 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

Topics

• Genetic Testing
• Humans
• Hyperlipoproteinemia Type II (diagnosis, genetics)
• Physical Examination