Value of the Definition of Severe Familial Hypercholesterolemia for Stratification of Heterozygous Patients

• Published in: The American journal of cardiology Vol. 119; no. 5; pp. 742 - 748
• Main Authors: Pérez-Calahorra, Sofia, RD, MSc, Sánchez-Hernández, Rosa, MD, Plana, Núria, MD, PhD, Marco-Benedi, Victoria, RD, Pedro-Botet, Juan, MD, PhD, Almagro, Fatima, MD, PhD, Brea, Angel, MD, PhD, Ascaso, Juan Francisco, MD, PhD, Lahoz, Carlos, MD, PhD, Civeira, Fernando, MD, PhD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-03-2017; Elsevier Limited
• Subjects: Acute coronary syndromes; Adult; Age; Arteriosclerosis; Body mass index; Cardiovascular; Cardiovascular disease; Cardiovascular Diseases - epidemiology; Cholesterol; Cholesterol, LDL - blood; Diabetes; Family medical history; Female; Gender; Heart attacks; Heterozygote; Humans; Hyperlipoproteinemia Type II - blood; Hyperlipoproteinemia Type II - classification; Hyperlipoproteinemia Type II - epidemiology; Hyperlipoproteinemia Type II - genetics; Hypertension; Lipids; Logistic Models; Low density lipoprotein; Male; Middle Aged; Multivariate Analysis; Muscular Diseases - epidemiology; Population; Prevalence; Risk Assessment; Severity of Illness Index; Statins; Tendons; Triglycerides; Variables; Xanthomatosis - epidemiology; cardiovascular disease; Severe HeFH; risk factors
• ISSN: 0002-9149; 1879-1913
• DOI: 10.1016/j.amjcard.2016.11.025

Abstract Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein (LDL) cholesterol with co-dominant transmission and high risk of cardiovascular disease (CVD), although with high variability among subjects. Currently, CVD stratification tools for heterozygous FH (HeFH) are not available. A definition of severe HeFH has been recently proposed by the International Atherosclerosis Society (IAS), but it has not been validated. Our study aims to see clinical characteristics and prevalence of CVD in subjects defined as severe HeFH by IAS criteria. Probable or definite HeFH introduced in the Dyslipidemia Registry of Spanish Arteriosclerosis Society were analyzed by the IAS criteria. Univariate and multivariate analysis was used to assess the association of CVD with the IAS criteria. 1,732 HeFH cases were analysed. Severe HeFH had higher prevalence of: familial history of CVD, personal history of tendon xanthomas, LDL cholesterol and CVD than those non-severe HeFH. A total of 656 (77.1%) and 441 (50.1%) of men and women, respectively, fulfilled the IAS criteria of severe HeFH. In the univariate analysis, subjects defined as severe HeFH showed OR 3.016 (95% CI 3.136-4.257, p<0.001) for CVD. However, when traditional risk factors were included in the multivariate analysis only the presence of LDL cholesterol >400 mg/dl had a statistically significant association with CVD OR 8.76 (95% CI 3.90-19.69, p<0.001). In conclusion, the IAS definition of severe HeFH is not significantly associated with CVD when adjusted for classic risk factors. Risk stratification in HeFH is an important issue but the proposed criteria do not seem to solve this problem.