Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia.

BACKGROUND: In Slovakia, a mandatory national universal pediatric total cholesterol (TC) screening program is in place to identify cases of familial hypercholesterolemia (FH). However, the program's effectiveness has not been systematically assessed. OBJECTIVE: This study aimed to estimate the prevalence of FH among parents of children that had elevated TC levels identified during screening. METHODS: This prospective, non-interventional, observational study enrolled parents of 11-year-old children who underwent TC screening in 23 selected pediatric outpatient clinics between 2017 and 2018. FH was diagnosed using the Dutch Lipid Clinic Network (DLCN) criteria and targeted next-generation sequencing. The primary objective was to estimate the proportion of children with a TC level of >188 mg/dL (>4.85 mmol/L) who had a parent with a confirmed diagnosis of FH. RESULTS: A total of 112 parents of 56 children with an elevated TC level were enrolled. Five children (8.9%) had a parent in whom FH was genetically confirmed. Without genetic analysis, all five parents would only be diagnosed with "possible FH" by DLCN criteria. Of parents, 83.9% (n = 94/112) had an LDL-C level of >116 mg/dL (>3 mmol/L), but only 5.3% (n = 5/94) received lipid-lowering therapy. Among the five parents with genetically confirmed FH, all had an LDL-C level >116 mg/dL (>3 mmol/L), with a mean (±SD) of 191 (±24) mg/dL (4.94 [±0.61] mmol/L). Only two of these parents received lipid-lowering therapy. CONCLUSIONS: The present study demonstrates the significance of mandatory universal pediatric TC screening in identifying families with FH and other at-risk families in need of lipid-lowering therapy.

Secondary prevention after acute coronary syndrome.

Patients suffering acute coronary syndrome have a very high risk for a repeated syndrome. After stabilization of acute coronary syndrome and discharge of a patient it is important to educate the patient how to prevent it in the future (dietary and life style changes), but treatment of all cardiovascular risk factors/diseases, as hypertension, dyslipidemia, diabetes but stabilization of all cardiovascular diseases is also important. Important is also antithrombotic treatment (mostly double antiplatelet treatment when percutaneous coronary intervention was used with a coronary stents), RAAS blockers, betablockers and statins (strong as atorvastatin and rosuvastatin in the highest possible dose). There are also new risk factors, and vascular inflammation belongs here. We have nowadays also some successful clinical studies how to block inflammation and how to use this treatment. A good secondary cardiovascular prevention is able to improve enourmously prognosis of these patients.

Treatment pattern of familial hypercholesterolemia in Slovakia: Targets, treatment and obstacles in common practice.

BACKGROUND AND AIMS: Maximal doses of potent statins are the cornerstone of treatment of familial hypercholesterolemia (FH). Despite this, a substantial proportion of FH patients are either under-treated or not treated at all. The aim of this work was to evaluate, in a retrospective study, the treatment of FH patients, the proportion of FH patients reaching low-density lipoprotein cholesterol (LDL-C) goals, and reasons for not reaching LDL-C goals, in 8 lipid clinics in Slovakia dealing with FH patients. METHODS: 201 heterozygous FH patients (50.8 ±â€¯14.9 years, 55% females) who attended the lipid clinics at least three times were included in the study. RESULTS: At the first visit, 31.3% of patients were treated with statins and the most common dose was 20 mg of atorvastatin, rosuvastatin and simvastatin. At the third visit, 78.1% of patients were treated with statins and 24.4% with ezetimibe. The majority of patients were treated with atorvastatin (75.8%) and rosuvastatin (18.5%) and 31.3% of all patients were treated with atorvastatin 80 mg or rosuvastatin 40 mg with/without ezetimibe. However, only 11.9% of patients with the LDL-C goal level <2.5 mmol/l and 6.9% with the goal <1.8 mmol/l reached the level. Reasons for not reaching the goal levels were evaluated by physicians in each patient. Insufficient LDL-C lowering effect of treatment, side-effects of therapy and non-compliance of patients were responsible for 46%, 18% and 30% of cases, respectively. CONCLUSIONS: Referral of FH patients to lipid clinics in Slovakia leads to improvement in the treatment; however, almost 22% of the patients are still without statin treatment and the majority of patients do not reach the LDL-C goal level.

Chronic heart failure in women. Brief review with a focus on new quality markers in therapy.

The problem of cardiovascular diseases in women is often neglected. Current guidelines recommend the same treatment for chronic heart failure (HF) in all patients regardless of sex. However, prior studies demonstrated sex­related differences in many aspects of HF care. Female patients with HF are less likely than men to receive evidence­based, guideline­recommended treatment; on the other hand, the effect of patient's sex on the administration of treatment is eliminated when the objective reasons for not using these therapies are taken into account. Women with HF are not undertreated in comparison with men when considering objective reasons (this is the cardinal advantage of new HF quality markers). Despite known sex differences, recommendations for HF treatment are the same for women and men because prospective sex­specific clinical trials have not been conducted. There is an urgent need for further research specifically focused on women with HF.