View clinical trials related to Familial Hypercholesterolemia.
Filter by:Familial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism, transmitted in an autosomal dominant manner and clinically characterized by elevated levels of total cholesterol (TC) and low-density lipoprotein (LDL) cholesterol, the presence of tendon xanthomas, and premature atherosclerosis. The homozygous form of familial hypercholesterolemia (HoFH) with autosomal dominant transmission, in which case both alleles of either LDLR, APOB, or PCSK9 gene are defective, is a rare genetic disorder with prevalence estimated to be one per million population. Large scale genetic screening for active FH cases finding has been performed in the Netherlands, Spain, Norway and Wales. However, the FH population and prevalence in Taiwan have never been formally studied. Patients are usually not under appropriate treatment owing to lack of standardized diagnostic tool and treatment strategy for FH. Moreover, with the emerging of new classes of LLTs, including microsomal triglyceride transfer protein (MTP) inhibitor, antisense oligonucleotide inhibitor, and PCSK9 inhibitors, even homozygous FH patients now have better chance to be treated to reach recommended treatment goals. Therefore, A National FH registry is needed to collect contemporary data on diagnosis, treatment and outcomes with long- term goals of improving diagnosis, management, and reduction of unnecessary cardiovascular events in FH population in Taiwan.
Familial hypercholesterolemia (FH) [heterozygous (heFH) or homozygous FH (hoFH)] is a common genetic disorder, characterized by elevated plasma low density lipoprotein (LDL) cholesterol concentration leading (if untreated) to cholesterol deposits in the corneas, eyelids and extensor tendons, rapidly progressing vascular disease, and aortic valve disease.
Familial hypercholesterolemia (FH) is a most prevalent genetic disorder, defines as high cholesterol level and premature death. The prevalence of FH has been reported in few countries however unknown in Iran. Thus recognize the FH patients, determine the diagnostic strategies and appropriate treatments are important. Also acute coronary syndrome (ACS) is a group of conditions which arises from reduction of blood flow in coronary arteries. Three specific conditions are included: ST elevation myocardial infarction, non ST elevation myocardial infarction and unstable angina. Premature ACS defined by occurrence of ACS<55 for men and ACS<60 for women. Studies demonstrated direct connection between familial hypercholesterolemia and occurrence of premature ACS. Investigators intent to detection of FH amongst patients with acute coronary syndrome.
Familial hypercholesterolemia (FH) is a most prevalent genetic disorder define as high cholesterol level and premature death. The prevalence of FH reported in few countries however unknown in Iran. Thus determine the FH patient, finding diagnostic strategy and appropriate treatment are important. We intent to use cascade method to screening patients, also our expected outputs are to develop and implement a registry program for FH patients and their families and to study their genetic disorder. FH patients will be followed from management, treatment and prevention of Cardio vascular disease in order to increase premature death.
Familial hypercholesterolemia (FH) is a common inherited disorder with a frequency of 1 in 500 in the UK. Our aim is compare the carotid and coronary artery atherosclerosis in monogenic FH and polygenic hypercholesterolemia with means of a carotid ultrasound, a coronary CT angiogram and biochemical biomarkers.
True prevalence of FH in the Russian Federation is unknown which leads to low percentage of diagnosed and treated cases. Research is needed to determine the prevalence of FH, specific diagnostic algorithms and optimal treatment strategies. The main aim of the present study is to evaluate the extent to which FH is underdiagnosed and undertreated in the Russian Federation for reduction of cardiovascular risk related to atherosclerosis in the country. As a first step, total cholesterol (TC) and low-density lipoprotein (LDL-C) levels will be determined in a random sample from Moscow population (n=18000). It is expected that TC ≥ 7.5 mmol/L will be detected in 10% of cohort. During 2014, approximately 500 patients will pass through non-invasive clinical examination at the Russian Cardiology Research and Production Center, including patient demographics, past medical history, family history of hypercholesterolemia, physical findings, current lipid-lowering therapies, blood tests, genetic analysis, echocardiography, carotid duplex ultrasound and exercise SPECT imaging in selected cases. On the basis of the Moscow Program four major Federal Medical Centers will be involved, and FH Registry will be created as a national, multi-center initiative to screen FH patients, control their diagnosis and management, and track clinical-reported outcomes over time. Establishment of National Guidelines for the diagnosis and treatment of FH on the basis of these data and implementation those into clinical practice in different regions of Russia will allow improving patient care. As an expected outcome, this program will raise awareness and increase appropriate assessment and treatment of FH patients in Russia, leading to a timely detection of the disease and therapy initiation.
Familial hypercholesterolemia (FH) is the most frequent genetic lipoprotein disorder associated with premature CAD. In Canada, the burden of disease is estimated to be approximately 83,500 patients. The goal of this initiative is to create a registry of subjects with FH across Canada. Rare diseases of lipoprotein metabolism are also included. Using a "hub and spoke" model, the registry extends in various communities to link primary care physicians with provincial academic centers. The registry includes clinical, biochemical and demographic information. Specimens (plasma/serum and DNA) are collected for biobanking. The "local" portion of the registry is available for clinicians to manage patient care, and identify relatives for screening and treatment (cascade screening). The Canada-wide registry, which is completely anonymized, will be made available to provide advice to general practitioners and to support collaborative studies in biomedical, clinical, health outcomes and health economics research. The data extracted for the provincial portion of the database will allow administrative database research that will provide important information to key stakeholders and permit allocation of resources. It will also allow a sound and uniform rationale for the use of novel therapeutic agents and provide expert advice to regulatory agencies. At the Canadian level, the database will allow clinicians and researchers to determine the burden of disease and the long-term effects of treatment. Through the creation of a Canada-wide network of academic clinics, integrating lipid specialists, endocrinologists and cardiologists, the Canadian FH registry will lead to significant benefits for FH patients, clinicians and researchers, biopharmaceutical industry and government.
The objective of this project is to establish the current prevalence of cardiovascular disease in adult subjects suffering from genetically diagnosed HF, and to know the impact that drug treatment has course in cardiovascular disease when compared with that of their affected parents with a much longer period of exposure to hypercholesterolemia
Familial hypercholesterolemia (FH), an inherited disorder of lipoprotein metabolism, is a risk for early cardiovascular disease (CVD). This autosomal dominant disease is characterized by markedly elevated plasma concentrations of low density lipoprotein (LDL) and total cholesterol (TC). The purpose of this study is to compare the effect of a diet low in saturated fats but enriched either with rapeseed oil (RO) or sunflower oil (SO) in children and adolescents with FH on serum lipoproteins.