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 ... -  《-》

Attainment of LDL Cholesterol Treatment Goals in Children and Adolescents With Familial Hypercholesterolemia. The SAFEHEART Follow-up Registry.

Little is known about the characteristics of persons with familial hypercholesterolemia (FH) younger than 18 years, the lipid-lowering therapy used in these patients, and the lipid goals reached in real life. Our aim was to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients younger than 18 years enrolled in a large national registry. We analyzed patients younger than 18 years enrolled in a large ongoing registry of molecularly-defined patients with FH in Spain. The attainment of guideline-recommended plasma LDL-C goals at entry and follow-up was analyzed in relation to the use of lipid-lowering therapy. We enrolled 392 individuals younger than 18 years. Of these, 217 were molecularly-diagnosed FH patients and had a complete follow-up. The median follow-up time was 4.69 years (interquartile range, 2.48-6.38 years), 68.2% of FH patients were on statins, and 41.5% patients had LDL-C < 130mg/dL. Statin use was the only predictor of LDL-C goal attainment. This study shows that a high proportion of FH patients younger than 18 years have high LDL-C levels and fail to achieve recommended LDL-C targets. Statin use was the only independent predictor of LDL-C goal achievement. No safety concerns were detected during follow-up. These results indicate that many FH patients are not adequately controlled and that there is still room for treatment improvement.

Saltijeral A ，Pérez de Isla L ，Alonso R ，Muñiz O ，Díaz-Díaz JL ，Fuentes F ，Mata N ，de Andrés R ，Díaz-Soto G ，Pastor J ，Pinilla JM ，Zambón D ，Pinto X ，Badimón L ，Mata P ，SAFEHEART Investigators ... -  《-》

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 ... -  《-》

Target achievement with maximal statin-based lipid-lowering therapy in Korean patients with familial hypercholesterolemia: A study supported by the Korean Society of Lipid and Atherosclerosis.

Data on treatment results of lipid-lowering therapy (LLT) in familial hypercholesterolemia (FH) are limited, particularly in Asian patients. We sought to evaluate the target achievement rate and associated variables in Korean patients with FH after maximal statin-based LLT. We enrolled 146 patients with heterozygous FH, and 90 patients were finally analyzed. Patients were initially prescribed rosuvastatin 10 mg or atorvastatin 20 mg, and the regimen was adjusted to achieve the low-density lipoprotein cholesterol (LDL-C) target of 100 mg/dL. The primary evaluation point was the achievement rate of the LDL-C targets at 12 months: LDL-C < 100 mg/dL and ≥50% LDL-C reduction. The associations between clinical variables and target achievement were also analyzed. At 12 months, 58% of patients were receiving high-intensity regimens, whereas 46% were receiving combination therapy. The mean pre- and post-treatment LDL-C levels were 229 and 118 mg/dL, respectively. Twenty-eight percent of patients achieved LDL-C < 100 mg/dL, and 47% achieved ≥50% LDL-C reduction. Pretreatment LDL-C and high-intensity regimens indicated a negative tendency toward the attainment of LDL-C < 100 mg/dL. Conversely, pretreatment LDL-C and diabetes mellitus were positively associated with a higher rate of ≥50% LDL-C reduction. The target achievement of LDL-C < 100 mg/dL was low, and 50% LDL-C reduction was moderately achieved in Korean patients with FH receiving maximal statin-based LLT. Pretreatment LDL-C levels and diabetes mellitus were associated with target achievement. Our results provide rare and informative data on FH treatment in Asian patients.

Oh J ，Lee CJ ，Kim DI ，Rhee MY ，Lee BK ，Ahn Y ，Cho BR ，Woo JT ，Hur SH ，Jeong JO ，Jang Y ，Lee SH ... -  《-》

Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART).

Mata N ，Alonso R ，Badimón L ，Padró T ，Fuentes F ，Muñiz O ，Perez-Jiménez F ，López-Miranda J ，Díaz JL ，Vidal JI ，Barba A ，Piedecausa M ，Sanchez JF ，Irigoyen L ，Guallar E ，Ordovas JM ，Mata P ... -  《Lipids in Health and Disease》