Subclassification of Phenotypic Homozygous Familial Hypercholesterolemia.

Homozygous familial hypercholesterolemia (HoFH) is a rare situation where biallelic genetic disturbance of low-density lipoprotein (LDL) metabolism leads to extreme elevation of LDL cholesterol. There is a great variety of severity in their phenotype, where some patients exhibit premature supravalvular aortic stenosis at their early childhood, whereas others experience myocardial infarction at their adolescence. In addition, there is a set of familial hypercholesterolemia (FH) patients whose phenotype fall into between heterozygous FH and HoFH.

Gout, Uric Acid, and Coronary Artery Disease.

Hyperuricemia, the biochemical precursor to gout, is usually defined as the theoretical limit of solubility of serum uric acid (UA) of ＞7.0 mg/dL. Hyperuricemia is closely associated with hypertension, diabetes mellitus, and dyslipidemia, which are well known to be related to risk factors for coronary artery disease (CAD).

Oral Semaglutide Further Reduced LDL Cholesterol in a Patient with Familial Hypercholesterolemia Treated with Statins, Ezetimibe, and Evolocumab.

We present the case of a woman with heterozygous familial hypercholesterolemia with a history of myocardial infarction at 53 years of age. Her initial low-density lipoprotein (LDL) cholesterol level was 312 mg/dL, which was reduced to ~50 mg/dL using statins, ezetimibe, and evolocumab. However, the patient also had diabetes, and its management gradually worsened.

Survey on the Current Status of Perinatal Management among Women with Familial Hypercholesterolemia in Japan.

Aim: Women with familial hypercholesterolemia (FH) face specific challenges during pregnancy and childbirth, such as treatment restrictions and the absence of guidelines. This study therefore assessed the status of perinatal management and the needs of women with FH.

Methods: We contacted 240 board-certified FH specialists, and these physicians screened eligible patients for the survey.

Triple Assessments of Atherosclerosis in Patients With Heterozygous Familial Hypercholesterolemia.

Background: Data on the appropriate timing and impact of atherosclerosis assessment in patients with heterozygous familial hypercholesterolemia (HeFH) are limited.

Objectives: The authors aimed to determine when atherosclerotic changes occur and the utility of triple assessments of carotid plaque, coronary plaque, and coronary artery calcium (CAC) in patients with HeFH.

Methods: Data from patients with HeFH in the primary prevention setting admitted to Kanazawa University Hospital between 2000 and 2020 who underwent triple atherosclerosis assessment and were followed up were retrospectively reviewed (n = 622, male = 306, mean age = 54 ± 13 years).

Protein-truncating variants of the cholesteryl ester transfer protein gene and risk for coronary artery disease among patients with heterozygous familial hypercholesterolemia.

Background: s: Cholesteryl ester transfer protein (CETP) inhibition has long been attracting a lot of attention if it could reduce the risk for coronary artery disease (CAD). A previous study has demonstrated that protein-truncating variants (PTVs) were associated with lower risk for CAD, which was dependent on lower LDL cholesterol in general population. We tested this hypothesis among Japanese heterozygous FH (HeFH) patients whose CAD risk was extremely high.

Assessments of Atherosclerosis and Treatment Strategies for Heterozygous Familial Hypercholesterolemia.

Patients with familial hypercholesterolemia (FH) carry an extremely elevated cardiovascular risk because of lifelong exposure to elevated low-density lipoprotein cholesterol (LDL-C). The Japan Atherosclerosis Society (JAS) complies with the clinical guidelines of FH stipulating diagnostic criteria as well as the treatment targets based on their cardiovascular preventive status. These guidelines are expected to improve the FH diagnosis rate and facilitate better LDL-C management, ultimately leading to improved patient outcomes.

Stereoisomer library prepared controlled radical polymerization: isolation, structural identification and discovery of stereospecific gelation behaviour of tri(N-phenyl acrylamide).

The construction of stereoisomer libraries is essential for designing, maximizing, and tuning the biological, self-assembly, and photoelectromagnetic properties of optically active molecules. In this study, a stereoisomer library consisting of all eight stereoisomers of a vinyl oligomer, a trimer of phenyl acrylamide (tri(PAAm)), was prepared by a one-pot controlled radical polymerization reaction followed by two-step column chromatography. Tacticity of each isomer, , the relative stereochemistry of three chiral centers within tri(PAAm), was assigned using proton nuclear magnetic resonance (H-NMR) and circular dichroism (CD) spectra.

App-Recorded Daily Step Counts, Sex Differences, and Risk of Cardiovascular Outcomes Among Middle-Aged Population.

Background: Limited data are available on sex-specific associations between daily step counts and cardiovascular events in middle-aged adults.

Methods: This study used the KenCoM Healthcare Database to evaluate sex-specific differences in cardiovascular event risk associated with daily step counts (DSC). The database incorporates DSC data from the KenCoM smartphone app, along with health checkup records and Japanese health insurance claims data.

Utility of Discrepancies Between Friedewald and Martin Equations in Predicting Pathogenic Variants of Familial Hypercholesterolemia in Children.

Background: The Friedewald equation, commonly used to calculate low-density lipoprotein cholesterol (LDL-C), occasionally yields inaccurate estimations for very-low-density lipoprotein cholesterol, suggesting the need for an alternative method such as the Martin equation. In this study, we aimed to evaluate the discrepancies between the Friedewald and Martin equations, particularly in the context of pathogenic variants associated with familial hypercholesterolemia (FH).

Methods And Results: We evaluated the discrepancies between LDL-C levels calculated using the Friedewald and Martin equations, and for the presence of pathogenic variants of FH in 53 children with hypercholesterolemia detected through universal lipid screening.

The Brussels International Declaration on Lipoprotein(a) Testing and Management.

There is striking evidence that a high lipoprotein(a) [Lp(a)] concentration is a strong, independent, and causal cardiovascular risk factor. However, Lp(a) testing rates are very low (1 %-2 %) despite the fact that 1 in 5 individuals have elevated Lp(a) concentrations. The Brussels International Declaration on Lp(a) Testing and Management was co-created by the Lp(a) International Task Force and global leaders at the Lp(a) Global Summit, held in Brussels, Belgium, on March 24-25, 2025.

Impact of Achilles tendon on diagnosis and phenotypes of familial hypercholesterolemia.

Purpose Of Review: Achilles tendon thickness is one of the most specific physical findings of familial hypercholesterolemia (FH), and thus it is used as one of the clinical diagnostic criteria. However, the objective assessment using imaging has not been used for a long time. We review the recent topic of this matter and discuss how this important assessment should be implemented in clinical settings.

B-type natriuretic peptide efficacy compared to fragmented QRS for diastolic dysfunction screening in patients with type 2 diabetes.

Background: Early diagnosis of left ventricular diastolic dysfunction (LVDD) is essential for preventing heart failure. B-type natriuretic peptide (BNP) is a viable marker for predicting LVDD, as elevated BNP levels have been associated with worsening LVDD in patients with diabetes over time. However, the utility of BNP as a diagnostic marker in diabetes is controversial, as BNP levels are often low in overweight individuals.

Impact of the clinical diagnostic strata of familial hypercholesterolemia on risk stratification among patients with hypercholesterolemia.

Background And Aims: In 2022, the Japan Atherosclerosis Society (JAS) revised clinical diagnostic criteria of familial hypercholesterolemia (FH), adopting the use of definite, probable, possible, and unlikely FH categories following the Dutch Lipid Clinic Network (DLCN) FH criteria. However, whether these strata would be useful for the risk stratification of coronary artery disease (CAD) events among patients with hypercholesterolemia is unclear.

Methods: We retrospectively reviewed the data of patients with hypercholesterolemia (LDL cholesterol ≥180 mg/dL) aged ≥15 years (N = 1,273, male = 631) admitted to Kanazawa University Hospital between 2000 and 2022.

A Case with Oligogenic Familial Hypercholesterolemia Treated by Combination Therapy of Statin, Ezetimibe, PCSK9 Inhibitor, and Lomitapide.

We encountered a 40-year-old man diagnosed with homozygous familial hypercholesterolemia (FH) based on clinical findings. The initial low-density lipoprotein (LDL)-cholesterol level was 393 mg/dL. He underwent coronary artery bypass graft (CABG) surgery for three-vessel disease.

A Cost-Effectiveness Analysis for the Combination of Universal Screening at 9-10 Years Old and Reverse Cascade Screening of Relatives for Familial Hypercholesterolemia in Japan.

Aim: Screening for familial hypercholesterolemia (FH) is important for reducing the incidence of cardiovascular diseases (CVDs). Cost-effectiveness was evaluated using the Kagawa FH screening model, which is a combination of universal screening (US) in the universal health examination for children 9-10 years old conducted in Kagawa Prefecture, and reverse cascade screening (RCS) of the probands' relatives.

Methods: A lifetime simulation was conducted using mathematical models (decision tree and Markov model) to determine the cost-effectiveness of introducing a series of FH screenings (US in children + RCS in adult relatives).

Usefulness of the LAVITA Telemonitoring System in Patients With Heart Failure - A Feasibility Study.

Background: Heart failure (HF) hospitalization is increasing in Japan's aging population. Current guidelines recommend daily biometric monitoring for patients with HF to facilitate early clinical intervention. However, promoting patient self-management remains insufficient.

Association Between Lipoprotein (a) Levels and Coronary Artery Disease (CAD) Among Patients With or Without CAD Family History.

Objective: Lipoprotein (a) (Lp[a]), which is a highly heritable trait, is associated with coronary artery disease (CAD). However, the insight into whether the association between Lp(a) and CAD differs according to the family history of CAD remains unclear.

Methods: We investigated clinical data of 4,512 participants who underwent serum Lp(a) level measurement at Kanazawa University Hospital between 2008 and 2016.

Impact of Genetic Testing and Sex Differences among Patients with Familial Hypercholesterolemia: The Hokuriku-plus Familial Hypercholesterolemia Registry Study.

Aim: We aimed to clarify the degree and factors associated with low-density lipoprotein (LDL)-cholesterol treatment target attainment among patients with heterozygous familial hypercholesterolemia (HeFH) using the Hokuriku-plus FH registry.

Methods: The Hokuriku-plus FH registry (UMIN000038210) was a prospective, observational, multicenter cohort study that enrolled consecutive patients with FH who fulfilled the clinical criteria for FH in Japan from 37 participating hospitals, mostly in the Hokuriku region, from April 2020 to March 2024. This registry collects data on clinical parameters, including lipid levels, physical findings, genetic background, and clinical events.

Comprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease.

Hereditary thoracic aortic disease (HTAD) is a rare heritable condition with several subtypes, including Marfan syndrome (MFS), vascular Ehlers-Danlos syndrome, and Loeys-Dietz syndrome (LDS). Although MFS is the most common type of HTAD caused by mutations in , differentiation from other conditions such as LDS is crucial due to the varying clinical courses. We report the case of a family history of early-onset ascending aortic dissection initially diagnosed as MFS based on a pathogenic variant of .

The First Japanese Case of Familial Hypercholesterolemia Caused by an apolipoprotein E (APOE) p.Leu167del Mutation.

We herein report the first Japanese case of familial hypercholesterolemia (FH) caused by a specific mutation in apolipoprotein E (APOE) [c.500_502delTCC (p.Leu167del)].

Impact of body mass index on mortality, limb amputation, and bleeding in patients with lower extremity artery disease undergoing endovascular therapy.

The relation between Body Mass Index (BMI) and adverse outcomes after endovascular therapy (EVT) for patients with lower extremity artery disease (LEAD) remains incompletely understood. From April 2010 to March 2020, 199 consecutive patients who underwent EVT for LEAD were retrospectively analyzed. The patients were divided into three groups based on BMI; underweight < 18.