Familial Hypercholesterolemia

• Familial hypercholesterolemia has been considered as one of the major causes of premature ASCVD, with carotid ultrasound being one of the most popular and noninvasive methods for assessing atherosclerosis among pediatric patients with FH.

• Carotid intima-media thickness is often used as a surrogate marker for systemic atherosclerosis among not only the general population but also pediatric patients with FH.

• Although intuitively attractive, a significant number of patients clinically diagnosed with FH are negative for mutations conventionally tested for by genetic screening, probably due to polygenic inheritance.

• In such patients, genetic cascade testing is expected to have a very low yield and is unlikely to be cost-effective. Hence, genetic cascade screening is likely to benefit only probands where a definite mutation is identified; in others, a strategy of lipid profile-based cascade screening is preferable.

• Several different types of clinical diagnostic criteria have been established for FH globally.