14,618 results match your criteria: "Hyperlipoproteinemia"

SYNTAX I score is associated with genetically confirmed familial hypercholesterolemia in chinese patients with coronary heart disease.

BMC Cardiovasc Disord

December 2024

Heart Center & Beijing Key Laboratory of Hypertension, Beijing Chaoyang Hospital, Capital Medical University, Beijing, People's Republic of China.

Background: Familial hypercholesterolemia (FH) is a genetically inherited disorder caused by monogenic mutations or polygenic deleterious variants. Patients with FH innate with significantly elevated risks for coronary heart disease (CHD). FH prevalence based on genetic testing in Chinese CHD patients is missing.

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Patients with genetically-based hyperlipidemias exhibit a wide phenotypic variability. Investigation of clinical and biochemical features is important for identifying genetically-based hyperlipidemias, determining disease prognosis, and initiating timely treatment. We analyzed genetic data from 3374 samples and compared clinical data, lipid levels (low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, triglycerides, and lipoprotein (a)), frequency, age at onset of coronary heart disease (CHD), and the severity of carotid and femoral atherosclerosis (plaque number, maximum stenosis, total stenosis, maximum plaque height, and plaque score) among patients with familial hypercholesterolemia (FH), familial dysbetalipoproteinemia (FD), polygenic hypercholesterolemia (HCL), severe HCL, and those without lipid disorders (n = 324).

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Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging.

Case Presentation: A four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive.

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Patient digital self-screening tool for familial hypercholesterolaemia: A pilot study.

Aust J Gen Pract

December 2024

FRACGP, MBBS (Hons), DCH (Lon), Associate Professor, Head General Practice and Primary Care Research, School of Medicine Sydney, University of Notre Dame, Sydney, NSW; General Practitioner, Glebe Family Medical Practice, Glebe, NSW.

Background And Objectives: Familial hypercholesterolaemia (FH) is a genetic condition contributing to premature cardiovascular disease. Currently, general practitioners (GPs) do not proactively screen for the condition. This study implemented and evaluated a digital FH self-screening questionnaire administered in general practice.

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Familial dysbetalipoproteinemia (FD) is a highly atherogenic, prevalent genetically based lipid disorder. About 10% of FD patients have rare variants associated with autosomal dominant FD. However, there are insufficient data on the relationship between rare variants and FD.

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Genetic basis of hypertriglyceridemia.

Clin Investig Arterioscler

December 2024

Unidad de Lípidos y Riesgo Cardiovascular, Servicio de Medicina Interna, Complejo Hospitalario Universitario de A Coruña, A Coruña, España. Electronic address:

The development of massive sequencing techniques and guidelines for assessing the pathogenicity of variants are allowing us the identification of new cases of familial chylomicronemia syndrome (FCS) mostly in the LPL gene, less frequently in GPIHBP1 and APOA5, and with even fewer cases in LMF1 and APOC2. From the included studies, it can be deduced that, in cases with multifactorial chylomicronemia syndrome (MCS), both loss-of-function variants and common variants in canonical genes for FCH contribute to the manifestation of this other form of chylomicronemia. Other common and rare variants in other triglyceride metabolism genes have been identified in MCS patients, although their real impact on the development of severe hypertriglyceridemia is unknown.

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Familial chylomicronemia: New perspectives.

Clin Investig Arterioscler

December 2024

Unidad de Lípidos y Riesgo Cardiovascular, Servicio de Medicina Interna, Complejo Hospitalario Universitario de A Coruña, A Coruña, España. Electronic address:

Familial chylomicronemia syndrome (FCS) is a very rare, underdiagnosed disorder that can cause abdominal pain and recurrent pancreatitis from childhood -potentially life-threatening- and chronic complications such as diabetes mellitus and exocrine pancreatic insufficiency. FCS affects the quality of life and mental health of those who suffer from it, aspects that must be taken into account in its treatment, based on a strict low-fat diet, which is difficult to adhere to and persist. People with FCS lack the lipolytic capacity to hydrolyze triglycerides (TG) and have a minimal or null response to conventional lipid-lowering treatments.

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Multifactorial chylomicronemia: keys to detecting severe forms.

Clin Investig Arterioscler

December 2024

Unidad de Lípidos y Riesgo Cardiovascular Servicio de Medicina Interna, Complejo Hospitalario Universitario de A Coruña, A Coruña, España.

Multifactorial chylomicronemia associated with multiple comorbidities, drugs and habits is much more common than familial chylomicronemia, an autosomal recessive disease that can be considered as "rare disease". Like the rest of hypertriglyceridemias, chylomicronemias could be classified as primary or monogenic and secondary in which, on the basis of polygenic predisposition, there is concomitant exposure to multiple triggering factors. In this brief revision, we will review its causes and management as well as the keys to its differential diagnosis of the Multifactorial Chylomicronemia.

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Wet-Cupping's Impact on Pancreatitis Induced by Hypertriglyceridemia: A case study and brief literature review.

Sultan Qaboos Univ Med J

November 2024

Internal Medicine Residency Training Program, Oman Medical Specialty Board, Muscat, Oman.

Article Synopsis
  • Familial hypertriglyceridemia is a genetic disorder that causes high levels of triglycerides in the blood, which can lead to acute and chronic pancreatitis.
  • A 34-year-old male patient in Muscat, Oman, diagnosed with this condition experienced a significant reduction in triglycerides and a decrease in hospital admissions for pancreatitis after starting cupping therapy.
  • This case report suggests that cupping therapy may help manage familial hypertriglyceridemia and lower the risk of pancreatitis.
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Article Synopsis
  • - Familial chylomicronemia syndrome (FCS) is a rare but severe form of hypertriglyceridemia, with over 100 cases identified at a specific center aimed at supporting clinicians and enhancing knowledge in disease management.
  • - A study of 29 pediatric patients revealed common symptoms such as milky blood samples, family history of hypertriglyceridemia, and acute pancreatitis, with gemfibrozil and fenofibrate proving effective in lowering triglyceride levels.
  • - The findings suggest anti-triglyceride medications, particularly fibrates, are safe and effective in managing FCS in kids, with gemfibrozil showing superior results compared to fenofibrate and both drugs causing minimal side effects
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Polygenic Prediction of Recurrent Events After Early-Onset Myocardial Infarction.

Circ Genom Precis Med

December 2024

British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care (M.A.,S.A.L., L.G.K., M.K., M.I., E.D.A., A.S.B.).

Background: Myocardial infarction (MI) is a complex disease caused by both lifestyle and genetic factors. This study aims to investigate the predictive value of genetic risk, in addition to traditional cardiovascular risk factors, for recurrent events following early-onset MI.

Methods: The Italian Genetic Study of Early-Onset Myocardial Infarction is a cohort study enrolling patients with MI before 45 years.

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Background: Familial hypercholesterolemia (FH) is a hereditary disease caused mainly by mutations in the gene encoding the low-density lipoprotein receptor (LDLR). This study aimed to confirm the pathogenicity of the LDLR c.97C>T (p.

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Dysbetalipoproteinemia: focus on a neglected lipid disorder.

J Clin Endocrinol Metab

November 2024

Division of Endocrinology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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Article Synopsis
  • - Familial hypercholesterolaemia (FH) is a genetic condition affecting about 1 in 220 to 250 people in Denmark, but most cases remain undiagnosed.
  • - If left untreated, FH significantly increases the risk of early cardiovascular diseases, making early diagnosis and treatment crucial.
  • - General practitioners play an essential role in screening for FH, while specialized Lipids Clinics manage diagnosis and treatment, suggesting that treatment should start from ages 7 to 10.
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Article Synopsis
  • This study investigates the weight-adjusted-waist index (WWI) as a new way to measure obesity and its relationship with Familial Hypercholesterolemia (FH).
  • Data from 3,698 participants in the NHANES survey revealed that higher WWI is linked to an increased likelihood of FH, with the prevalence rising from 4% in the lowest WWI group to 7.34% in the highest.
  • The findings indicate a strong nonlinear correlation between WWI and FH, suggesting new approaches for preventing and treating FH could be developed based on these insights.
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Article Synopsis
  • Fatty acids contribute to liver issues, and PCSK9 is known to limit the liver's uptake of LDLs, which links it to nonalcoholic fatty liver disease (NAFLD) and cardiovascular risks.
  • The study examined patients with familial hypercholesterolemia (FH) who were on statin treatment, measuring their blood lipid levels, PCSK9, and liver function to explore correlations.
  • Results showed a significant negative correlation between PCSK9 levels and the ALT:AST ratio, suggesting that statin therapy may influence NAFLD development in FH patients through its effect on PCSK9.
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  • Familial hypercholesterolemia (FH) significantly increases the risk of early coronary artery disease (CAD), prompting this study of 690 patients who experienced their first ST-elevation myocardial infarction (STEMI).
  • The analysis categorized patients based on the Dutch Lipid Clinic Network criteria, revealing a majority with unlikely or possible FH (86.1%) and a smaller group with probable or definite FH (13.9%), with key differences in age and CAD severity observed.
  • Patients with probable/definite FH were generally younger and exhibited more severe CAD characteristics, including three-vessel disease, higher thrombus burden, and worse final blood flow outcomes compared to those with unlikely/possible FH.
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Article Synopsis
  • - Familial hypercholesterolemia (FH) registries collect important data on the management of FH, including real-world practices, epidemiology, and how late diagnoses affect cardiovascular health and healthcare use.
  • - Most adult patients with heterozygous FH (HeFH) are diagnosed late and often do not achieve recommended cholesterol levels, while genetic testing is crucial for early detection in children and adolescents.
  • - Data from these registries highlight the need for better strategies to improve FH care globally, particularly addressing disparities in treatment and outcomes based on income levels.
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  • This study explores the connection between familial hypercholesterolemia (FH) and vitamin deficiencies, seeking to clarify if having FH increases the risk of these deficiencies.
  • Utilizing Mendelian randomization, researchers analyzed extensive datasets from the FinnGen study, focusing on FH, ischemic heart disease, and various vitamin levels among over 300,000 individuals.
  • The findings suggest that FH is linked to higher odds of thiamine and vitamin D deficiencies, highlighting potential complications arising from FH that may impact individuals' health.
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Article Synopsis
  • PCSK9 is crucial for regulating LDL-cholesterol and certain variants, like p.Ser127Arg, lead to higher cholesterol levels and are mainly found in France, with few in South Africa and Norway due to a common ancestor effect.
  • The study analyzed 14 p.Ser127Arg carriers from eight families and compared them with other variants to understand their genetic background and health impact.
  • Results indicated that the common ancestor lived about 775 years ago, and carriers of p.Ser127Arg had significantly higher LDL-C levels, suggesting it may have a stronger effect on cholesterol levels compared to other mutations.
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Article Synopsis
  • Evolocumab, a monoclonal antibody approved for treating familial hypercholesterolemia (FH) and hypercholesterolemia, was evaluated in a real-world study in Japan, as data on its effectiveness and safety were previously limited.
  • The study involved 3724 patients with various forms of FH and hypercholesterolemia over 104 weeks, measuring both safety (incidences of adverse reactions) and effectiveness (changes in LDL cholesterol levels).
  • Results indicated that Evolocumab was well tolerated, showing significant reductions in LDL cholesterol levels, with low rates of serious adverse events, suggesting it is a viable treatment option for high-risk patients in Japan.
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