Evaluation of coronary risk factors in patients with heterozygous familial hypercholesterolemia

The Use of Achilles Tendon Sonography to Distinguish Familial Hypercholesterolemia from Other Genetic Dyslipidemias

“…Although highly variable, the clinical prevalence of tendon xanthomas is Ͻ50% in unselected series of FH adults, whether diagnosed by DNA testing 5,6,16,24 or by clinical criteria alone. 7,25 Clinical detection in our FH subjects was within this range (Table 1). Tendon xanthomas are a key feature for the clinical diagnosis of FH, 8,10 but identification by physical examination is subjective and based on clinical experience, and may be difficult in borderline cases.…”

Lipoprotein(a) Is an Independent Risk Factor for Cardiovascular Disease in Heterozygous Familial Hypercholesterolemia

“…Larger studies (10,11,14,15 ) with cohorts ranging from 262 (15 ) to 526 (10 ) found no correlation between Lp(a) concentration and CVD in the general HFH population. However, Jansen et al (7 ) recently published a very large retrospective analysis of classic risk factors in HFH with data from 2400 Dutch HFH patients.…”

“…Although Lp(a) is an established risk factor for CVD in the general population (2 ), there is some controversy as to its utility as a predictive factor for CVD in the HFH population. Whereas some studies have found that increased Lp(a) is associated with increased risk of CVD (3)(4)(5)(6)(7), others have not (8 -14 ) or have found it useful in the prediction of very early coronary artery disease (CAD) only (15 ).…”

Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea

“…A recent imaging study indicated that coronary atherosclerosis may begin in early twenties even in Asian FH patients 28) . Traditional cardiovascular risk factors including age and sex have been known to predispose FH patients to CAD in Western countries 29) . In Korea, independent predictors of CAD in FH patients were hypertension and low high-density lipoprotein cholesterol (HDL-C) levels 5) .…”