Publications by authors named "Masa-aki Kawashiri"
We herein report the first Japanese case of familial hypercholesterolemia (FH) caused by a specific mutation in APOE (c.500_502delTCC [p.Leu167del]).
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- Hypertension is linked to worse health outcomes in patients with familial hypercholesterolemia (FH), prompting an investigation into how managing blood pressure affects cardiovascular events.
- The study involved 1,273 patients with clinically diagnosed heterozygous FH, categorizing them based on their hypertension status and blood pressure control over a median follow-up of 10.9 years.
- Results indicated that better blood pressure management significantly reduced the occurrence of cardiovascular events, with higher risk associated with uncontrolled hypertension.
Article Synopsis
- - The modified 2022 Japan Atherosclerosis Society criteria for familial hypercholesterolemia (FH) changed the Achilles tendon thickness (ATT) cutoff values, lowering them for both men and women compared to previous standards.
- - A study of 872 FH patients revealed that those with ATT between the new cutoffs had a significantly higher rate of positive FH mutations (55.9%) compared to the lowest ATT group (14.0%).
- - The findings suggest that the updated ATT criteria more accurately identify FH cases, highlighting the risk of underdiagnosing FH when relying solely on physical examinations for tendon xanthomas.
Background: Anemia, a common comorbidity in older patients with heart failure (HF) and atrial fibrillation (AF), is associated with an increased risk of adverse events. This study evaluated the prognostic effects of longitudinal changes in anemia status on clinical outcomes in patients with AF.
Methods And Results: We prospectively evaluated data of 1,388 patients with AF from the Hokuriku-Plus AF Registry (1,010 men; mean [±SD] age 72.
Background: Little is known regarding the formation of coronary and carotid plaques and their impact on cardiovascular disease in patients with familial hypercholesterolemia (FH).
Objectives: This study aimed to determine: 1) if the development of coronary and carotid plaques is correlated; and 2) if these plaques are associated with major adverse cardiac events (MACEs) defined as cardiovascular-related death, unstable angina, myocardial infarction, or staged revascularization.
Methods: This was a retrospective review of 622 patients with heterozygous FH (HeFH) at Kanazawa University Hospital, assessed coronary and carotid plaque scores using coronary computed tomography and carotid ultrasound within 1 year.
We present a young boy with a diagnosis of homozygous familial hypercholesterolemia who presented with statin and ezetimibe resistance. The patient received lipoprotein apheresis at 6 years of age. His low-density lipoprotein cholesterol levels significantly were reduced by adding lomitapide and evinacumab, and his carotid plaque started to regress.
View Article and Find Full Text PDFFamilial combined hypolipidemia, previously known as Familial hypobetalipoproteinemia 2 (FHBL2) is considered as an extremely rare recessive disease. Here, we present the case of familial combined hypolipidemia with homozygous loss-of function (LOF) variants in angiopoietin-like protein 3 () ((NM_014495.4) c.
View Article and Find Full Text PDFBackground: Achilles tendon thickening (ATT) can be ameliorated by lowering low-density lipoprotein (LDL) levels in patients with familial hypercholesterolemia (FH). The Japan Atherosclerosis Society (JAS) defines ATT as ≥8.0 mm in males and ≥7.
View Article and Find Full Text PDFArticle Synopsis
- - Familial hypercholesterolemia (FH) is a common inherited condition that leads to very high levels of low-density lipoprotein (LDL) cholesterol, increasing the risk of serious health issues like coronary artery disease and skin/xanthomas.
- - Genetic counseling and testing are important for diagnosing FH, assessing risks, and guiding effective LDL-lowering treatments.
- - The study reviews the existing research on FH, covering its genetic underpinnings, symptoms, and the critical role of genetic services in daily healthcare practice.
Aims: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels, which increases the risk of premature coronary artery disease. Early detection and treatment are vital, especially in children. To improve FH diagnosis in children, the Japan Atherosclerosis Society (JAS) released new guidelines in July 2022.
View Article and Find Full Text PDFObjective: Sitosterolemia is a rare autosomal recessive disease caused by the deleterious variants of adenosine 5'-triphosphate (ATP)-binding cassette sub-family G member 5 () or ATP-binding cassette sub-family G member 8 (). There are only few data on the pathogenicity of and . This study aimed to propose a scheme for determining variant pathogenicity and to catalog the putative pathogenic variants in sitosterolemia.
View Article and Find Full Text PDFBackground: The studies evaluating patients' characteristics and lipid-lowering therapy for patients with homozygous familial hypercholesterolemia (HoFH) are scarce.
Objectives: This study aims to evaluate the characteristics of and treatments for patients with HoFH.
Methods: This study included 201 patients who were diagnosed with definite or probable HoFH from the National Database of the Japanese Ministry of Health, Labour, and Welfare.
Aim: In 2022, the Japan Atherosclerosis Society (JAS) has revised its clinical diagnostic criteria of familial hypercholesterolemia (FH) and adopted the use of definite, probable, possible, and unlikely FH according to the Dutch Lipid Clinic Network (DLCN) FH criteria. However, these strata have not been validated and their impact on coronary artery disease (CAD) is yet to be elucidated.
Methods: In this study, we retrospectively examined the patients with FH aged ≥ 15 years (N=857, male=431) who were admitted to Kanazawa University Hospital between 2010 and 2022.
Article Synopsis
- - The study focused on patients with familial hypercholesterolemia (FH) to understand the varying risks of atherosclerotic events, specifically looking at severe FH as defined by the International Atherosclerosis Society.
- - Researchers analyzed data from 1,050 FH patients over 12.6 years, finding that 51.9% had severe FH, which was significantly linked to a higher occurrence of major adverse cardiac events (MACEs), including various cardiovascular issues.
- - The findings revealed that patients with severe FH had much higher event rates for MACEs compared to non-severe FH patients, indicating that this criteria can help identify those needing more intense medical attention.
Background: The prognostic effect of concomitant hypertrophic cardiomyopathy (HCM) on adverse events in patients with atrial fibrillation (AF) has not been evaluated in a multicenter prospective cohort study in Japan.
Methods and results: Using the Hokuriku-Plus AF Registry, 1,396 patients with nonvalvular AF (1,018 men, 72.3±9.
Background: Lipoprotein (a) [Lp(a)] is associated with coronary artery disease (CAD). However, the role of healthy lifestyle against the risk of CAD with consideration of high Lp(a) levels remains unclear.
Methods: This study examined 4512 participants who underwent serum Lp(a) level assessment at Kanazawa University Hospital from 2008 to March 2016.
Background: Familial hypercholesterolemia (FH) is an autosomal dominant monogenic disease characterized by high low-density lipoprotein cholesterol (LDL-C) levels. Although carrying causative FH variants is associated with coronary heart disease (CHD), it remains unclear whether disclosing its associated cardiovascular risk affects outcomes in patients with FH.
Objective: We aimed to evaluate the efficacy of providing future cardiovascular risk based on genetic testing in addition to a standard FH education program.
Streptococcal toxic shock syndrome (STSS) caused by Streptococcus dysgalactiae subsp. equisimilis (SDSE)-related empyema is rare but can result in shock vitals, acute kidney injury, and extensive erythema. In the present case, a 92-year-old woman with empyema caused by SDSE developed STSS after pleural drainage and antibiotic therapy.
View Article and Find Full Text PDFAims: We aimed to explored the association between the use of optimal medical therapy (OMT) in patients with myocardial infarction (AMI) and diabetes mellitus (DM) and clinical outcomes.
Methods: Bleeding complications in a Multicenter registry of patients discharged with diagnosis of Acute Coronary Syndrome (BleeMACS) is an international registry that enrolled participants with acute coronary syndrome followed up for at least 1 year across 15 centers from 2003 to 2014. Baseline characteristics and endpoints were analyzed.
Aims: We aimed to determine if coronary artery calcium (CAC) is associated with cardiovascular disease (CVD) events, defined as CVD-related death, unstable angina, myocardial infarction, or staged revascularization among patients with heterozygous familial hypercholesterolaemia (HeFH) under primary prevention settings.
Methods And Results: Data of patients with FH admitted to Kanazawa University Hospital between 2000 and 2020, who underwent CAC measurement and were followed up ( = 622, male = 306, mean age = 54 years), were retrospectively reviewed. Risk factors for CVD events were determined using the Cox proportional hazard model.
Background And Aims: No previous study has investigated the association between attainment of low-density lipoprotein (LDL) cholesterol treatment target and better prognosis in patients with familial hypercholesterolemia (FH). The current research aimed to examine the association between attainment of LDL cholesterol treatment target and major adverse cardiac events (MACEs) in patients with FH to validate the current LDL cholesterol treatment targets in primary (<100 mg/dL) and secondary (<70 mg/dL) prevention settings.
Methods: The data of patients with FH who were admitted to Kanazawa University Hospital between 2000 and 2020 and who were followed-up were retrospectively reviewed.
Background: Pathogenic mutations are associated with poor outcomes in patients with familial hypercholesterolemia (FH). However, data on the effects of a healthy lifestyle on FH phenotypes are limited.
Objectives: The authors investigated the interaction between a healthy lifestyle and FH mutation with prognosis in patients with FH.
Background: A recent randomized trial demonstrated that catheter ablation for atrial fibrillation (AF) in patients with heart failure with reduced ejection fraction (EF) is associated with a reduction in death or heart failure. However, the effect of catheter ablation for AF in patients with heart failure with mid-range or preserved EF is unclear.
Methods and results: We screened 899 AF patients (72.