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

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. 201 heterozygous FH patients (50.8 ± 14.9 years, 55% females) who attended the lipid clinics at least three times were included in the study. 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. 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.

Vohnout B ，Fábryová Ľ ，Klabník A ，Kadurová M ，Bálinth K ，Kozárová M ，Bugáňová I ，Sirotiaková J ，Rašlová K ... -  《-》

Real-life LDL-C treatment goals achievement in patients with heterozygous familial hypercholesterolemia in the Czech Republic and Slovakia: Results of the PLANET registry.

Despite the high prevalence of familial hypercholesterolemia (FH) and available effective lipid-lowering therapy, most of the individuals with this disorder remain undiagnosed and undertreated. The aim of the PLANET registry was to assess the real-life attainment of low-density lipoprotein cholesterol (LDL-C) therapeutic target level in patients with heterozygous FH, to characterize prescribed lipid-lowering therapy with assessment of its efficiency according to the attainment of the target LDL-C level, and to characterize cardiovascular events observed in this patient population again in relation to LDL-C target level attainment. PLANET registry was designed as a non-interventional, retrospective, cross-sectional, multicentre disease registry for adult patients with heterozygous FH in the Czech Republic and Slovakia. Overall, 1755 patients were enrolled at 32 sites specialized in FH treatment. 15.4% of patients attained the target LDL-C value. The proportion of patients with LDL-C goal achievement increased to 17.3% in the subgroup of patients receiving high-intensity statin therapy (54.6% of study population). Out of 55 patients receiving inhibitors of proprotein convertase subtilisin/kexin type 9 (PCSK9), 61.8% reached the LDL-C treatment goal. Of all cardiovascular events reported, 14.0% occurred in patients attaining the LDL-C goal, while it was 86.0% in the not-at-target group. It was documented (p=0.004) that the longer is the patient in care at the specialized FH centre, the higher is the probability that he/she will attain the target LDL-C level. Although target LDL-C level attainment remains relatively low, the likelihood of LDL-C goal attainment increases with duration of specialized care.

Vrablik M ，Raslová K ，Vohnout B ，Blaha V ，Satny M ，Kyselak O ，Vaclova M ，Urbanek R ，Maskova J ，Soska V ，Freiberger T ... -  《-》

LDL-cholesterol target achievement in patients with heterozygous familial hypercholesterolemia at Groote Schuur Hospital: Minority at target despite large reductions in LDL-C.

Familial hypercholesterolemia (FH) is characterized by markedly increased LDL-cholesterol (LDL-C) and premature cardiovascular disease (CVD). LDL-C lowering is the cornerstone of therapy. The aim of our study was to evaluate LDL-C target achievement and explore reasons for not reaching target in FH patients attending a public-sector lipid clinic at Groote Schuur Hospital in Cape Town, South Africa. We reviewed clinical records of patients with genetically confirmed heterozygous FH (heFH) retrospectively. For patients seen after 2013, when new guidelines were published, we determined reasons for use of submaximal therapy. Our study population consisted of 776 adult heFH patients. A substantial proportion (41%) of those younger than 50 years of age had already experienced a cardiovascular event. The mean (±SD) untreated and best achieved LDL-C values during follow up were 8.1 ± 2.1 and 4.0 ± 1.5 mmol/l, respectively. Despite a mean LDL-C reduction of 50%, only 140 (25%) achieved an LDL-C ≤ 3.0 mmol/l. Of the 164 participants with follow up after 2013, 42 did not reach LDL-C < 3.0 mmol/l and did not use maximal therapy (26%). The commonest reasons for not using maximum therapy were statin side-effects (n = 15, 36%) and acceptance by the patient (n = 9, 22%) or the physician (n = 8, 19%) of the control achieved. The heFH population in Cape Town is characterized by high baseline LDL-C, a high prevalence of CVD at presentation and low rates of achieving an LDL-C target of 3.0 mmol/l.

van Delden XM ，Huijgen R ，Wolmarans KH ，Brice BC ，Barron JK ，Blom DJ ，Marais AD ... -  《-》

Lipid-modifying therapy and low-density lipoprotein cholesterol goal attainment in patients with familial hypercholesterolemia in Germany: The CaReHigh Registry.

Familial hypercholesterolemia (FH) is amongst the most common genetic disorders encountered in primary care. Yet, only a minority of affected patients is diagnosed and treated. This interim analysis of the CaRe High Registry aims at examining the state of treatment and attainment of lipid goals in German FH patients. The CaRe High registry includes FH patients from lipid clinics and private practices. Data have been collected using questionnaires filled in by the recruiting physicians and by interviewing the participating patients. We examined 512 F H patients diagnosed according to clinical criteria. Median age at the time of the first FH diagnosis was 39 (25th and 75th percentile: 27-50) years, median treatment naïve LDL cholesterol (LDL-C) was 239.4 mg/dl (6.19 mmol/l), 25th to 75th percentile 191.8-342.5 mg/dl (4.96-8.86 mmol/l). 27% of the participants did not receive lipid-lowering drugs. Among the patients treated with lipid-lowering drugs, 19% received a PCSK9 inhibitor (PCSK9i) in combination with a statin, 9% were treated with a PCSK9i alone and 3% were treated with a combination of PCSK9i and a non-statin drug. Patients with pre-existing CVD were more likely to be treated with lipid-lowering drugs and more likely to receive a PCSK9i, but LDL-C targets were only achieved by a minority of patients (<20%). Gap to target LDL-C was lowest and the median achieved LDL-C reduction was 1.4 times higher with PCSK9i treatment than with (oral) lipid-lowering therapy without PCSK9i. The Care High registry has included patients with the typical clinical features of familial hypercholesterolemia. PCSK9i treatment in addition to standard therapy allows attainment of target values in many patients with initially very high LDL-C.

Schmidt N ，Dressel A ，Grammer TB ，Gouni-Berthold I ，Julius U ，Kassner U ，Klose G ，König C ，Koenig W ，Otte B ，Parhofer KG ，Reinhard W ，Schatz U ，Schunkert H ，Steinhagen-Thiessen E ，Vogt A ，Laufs U ，März W ... -  《-》

Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up.

Familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular disease (ASCVD). There are sparse data on attainment of treatment targets; large registries that reflect real-life clinical practice can uniquely provide this information. We sought to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients enrolled in a large national registry. The SAFEHEART study (Spanish Familial Hypercholesterolemia Cohort Study) is a large, ongoing registry of molecularly defined patients with heterozygous FH treated in Spain. The attainment of guideline-recommended plasma LDL-C goals at entry and follow-up was investigated in relation to use of lipid-lowering therapy (LLT). The study recruited 4,132 individuals (3,745 of whom were ≥18 years of age); 2,752 of those enrolled were molecularly diagnosed FH cases. Mean follow-up was 5.1 ± 3.1 years; 71.8% of FH cases were on maximal LLT, and an LDL-C treatment target <100 mg/dl was reached by only 11.2% of patients. At follow-up, there was a significant increase in the use of ezetimibe, drug combinations with statins, and maximal LLT. The presence of type 2 diabetes mellitus, a defective allele mutation, ezetimibe use, and the absence of previous ASCVD were predictors of the attainment of LDL-C goals. Despite the use of intensified LLT, many FH patients continue to experience high plasma LDL-C levels and, consequently, do not achieve recommended treatment targets. Type of LDL-receptor mutation, use of ezetimibe, coexistent diabetes, and ASCVD status can bear significantly on the likelihood of attaining LDL-C treatment goals.

Perez de Isla L ，Alonso R ，Watts GF ，Mata N ，Saltijeral Cerezo A ，Muñiz O ，Fuentes F ，Diaz-Diaz JL ，de Andrés R ，Zambón D ，Rubio-Marin P ，Barba-Romero MA ，Saenz P ，Sanchez Muñoz-Torrero JF ，Martinez-Faedo C ，Miramontes-Gonzalez JP ，Badimón L ，Mata P ，SAFEHEART Investigators ... -  《-》