Impact of conducting a genetic study on the management of familial hypercholesterolemia.

BACKGROUND: Clinically diagnosed familial hypercholesterolemia (FH) may require a genetic test (GT) to confirm diagnosis. GT availability/accessibility is resource-dependent and usually restricted to specialized clinics. While GT has a diagnostic value, it has not yet defined its impact on long-term management and prognosis of FH. OBJECTIVE: The aim was to identify the clinical characteristics associated with the request for a GT in suspected heterozygous FH. METHODS: Retrospective study including adult patients with clinically suspected to be FH. Positive GT (GT+) was defined as having a pathogenic/likely pathogenic variant. Patients were stratified based on whether they had a genetic study conducted, and among those with a genetic study, according to those who did or did not have a GT+. RESULTS: From 4854 patients included, 3090 were performed a GT (GT+: 2113). Median follow-up: 6.2 years. A younger age, FH-related physical signs, premature coronary disease, higher low-density lipoprotein cholesterol (LDLc) and lower body mass index and triglycerides, associated higher odds of being conducted a genetic study. These patients had higher baseline LDLc (252 mg/dL vs. 211 mg/dL among clinically diagnosed patients) and experienced larger reductions over the follow-up (157.7 mg/dL vs. 113.5 mg/dL, respectively). A similar pattern was observed among patients with GT+ (vs. negative GT). LDLc target attainment was low but increased to 66-95% when a triple combination with statin/ezetimibe/proprotein convertase subtilisin kexin type 9-inhibitor was used. Cardiovascular events occurred in 3.2% and 3.1% of patients who conducted/not conducted a genetic study. Patients conducted a genetic analysis and those with GT+ tended to present the events earlier. CONCLUSIONS: Genetic study, vs. having a clinical-only diagnosis, impacts the management of FH. Cardiovascular prognosis was similar in both groups, perhaps as a result of the more intensive management of patients with a genetic study.

Consensus document of the Spanish Society of Arteriosclerosis (SEA) for the prevention and treatment of cardiovascular disease in type 2 diabetes mellitus. / Documento de consenso de la Sociedad Española de Arteriosclerosis (SEA) para la prevención y tratamiento de la enfermedad cardiovascular en la diabetes mellitus tipo 2.

A consensus document of the Diabetes working group of the Spanish Society of Arteriosclerosis (SEA) is presented, based on the latest studies and conceptual changes that have appeared. It presents the cardiovascular risk in type 2 diabetes mellitus (T2DM) and the action guidelines for the prevention and treatment of cardiovascular disease (CVD) associated with T2DM. The importance of lipid control, based on the objective of LDL-C and non-HDL-C when there is hypertriglyceridemia, and the blood pressure control in the prevention and treatment of CVD is evaluated. The new hypoglycemic drugs and their effects on CVD are reviewed, as well as the treatment and control guidelines of hyperglycemia. Likewise, the use of antiplatelet agents is considered. Emphasis is placed on the importance of global and simultaneous action on all risk factors to achieve a significant reduction in cardiovascular events. This supplement is sponsored by Laboratorios Esteve, S.A.