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Familial hypercholesterolemia

Manuela Casula, Lorenza Scotti, Elena Tragni, Luca Merlino, Giovanni Corrao, Alberico L Catapano
BACKGROUND AND AIMS: We aimed at describing the therapeutic approach in young adult patients diagnosed with heterozygous familial hypercholesterolemia (HeFH) and their adherence and persistence to treatment. METHODS: From regional administrative databases, individuals aged ≤40 years, who received exemption for HeFH between January 1, 2003 and December 31, 2011, and concomitantly started statin treatment, were identified. Within the first year of treatment, we evaluated therapeutic changes, adherence as MPR (medication possession ratio), persistence as continuous drug coverage without gaps ≥60 days, and influencing factors using log binomial models...
October 12, 2016: Atherosclerosis
Rocío Mera-Gallego, Patricia García-Rodríguez, Marta Fernández-Cordeiro, Ángeles Rodríguez-Reneda, Natalia Vérez-Cotelo, N Floro Andrés-Rodríguez, J Antonio Fornos-Pérez, Itxaso Rica-Echevarría
BACKGROUND AND AIM: The current guidelines for treatment of high blood pressure do not include any section dedicated to hypertension in children and adolescents or to cardiovascular disease (CVD) prevention strategies in that age group. Our study was aimed at identifying cardiovascular risk factors (CVRFs) in an adolescent sample. SUBJECTS AND METHODS: A cross-sectional study of a sample of adolescents aged 12 to 17years (n=630), conducted from October 2014 to February 2015 in four schools in Cangas do Morrazo (Pontevedra)...
October 13, 2016: Endocrinología y Nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición
María Beatriz Araujo, María Sol Pacce
BACKGROUND: Current pediatric guidelines for heterozygous familial hypercholesterolemia (HeFH) propose pharmacotherapy (PT) with statins from age 8 to 10 years; however, schemes with absorption inhibitors combined with statins, could be started earlier. The aim of the study was to show the 10-year results of a combined treatment protocol. METHODS: Prospective, descriptive and analytical study. Pediatric patients (n=70; mean age at PT initiation 9.3 years [range, 2-17...
October 8, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Douglas S Moodie
No abstract text is available yet for this article.
September 2016: Congenital Heart Disease
Karam Kostner
No abstract text is available yet for this article.
September 28, 2016: Atherosclerosis
L Bonanni, A Cutolo, M Dalla Vestra
Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein (LDL) cholesterol.The extent of underdiagnosis and undertreatment of individuals with FH is largely unknown.The LDL-lowering capacity of statins in combination with other lipid-lowering drugs is maximally around 50-60%. FH patients have a strongly elevated LDL-C and in most cases maximal current treatment is not sufficient to reach the desired LDL targets.Therefore, FH patients have a large residual cardiovascular risk despite the use of statins and there is a medical need for new additional drugs to further lower LDL-C in patients with FH to improve their prognosis...
October 6, 2016: Experimental and Clinical Endocrinology & Diabetes
Leonardo C Mangili, Otavio C Mangili, Márcio S Bittencourt, Márcio H Miname, Paulo H Harada, Leonardo M Lima, Carlos E Rochitte, Raul D Santos
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a common genetic disorder characterized by elevated blood cholesterol, increased prevalence of subclinical atherosclerosis and high risk of premature coronary heart disease. However, this risk is not explained solely by elevated LDL-cholesterol concentrations, and other factors may influence atherosclerosis development. There is evidence that increased adiposity may predispose to atherosclerosis in FH. Epicardial fat has been associated with subclinical coronary atherosclerosis in the general population...
September 9, 2016: Atherosclerosis
Meghan T Walsh, M Mahmood Hussain
Homozygous familial hypercholesterolemia (HoFH) is a polygenic disease arising from defects in the clearance of plasma low-density lipoprotein (LDL), which results in extremely elevated plasma LDL cholesterol (LDL-C) and increased risk of atherosclerosis, coronary heart disease, and premature death. Conventional lipid-lowering therapies, such as statins and ezetimibe, are ineffective at lowering plasma cholesterol to safe levels in these patients. Other therapeutic options, such as LDL apheresis and liver transplantation, are inconvenient, costly, and not readily available...
October 1, 2016: Critical Reviews in Clinical Laboratory Sciences
Charlotte Koopal, Frank L J Visseren, A David Marais, Jan Westerink, Wilko Spiering
Tendon xanthoma are most commonly associated with Familial Hypercholesterolemia, but the differential diagnosis includes sitosterolemia and cerebrotendinous xanthomatosis (CTX). The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX. CTX is a rare, recessive disorder caused by mutations in the CYP27A1 gene. The resultant defect in bile acid synthesis leads to cholestanol deposition in different tissues in the body, including tendons. CTX is associated with neurologic symptoms and a reduced life expectancy...
September 2016: Journal of Clinical Lipidology
Maya S Safarova, Hongfang Liu, Iftikhar J Kullo
BACKGROUND: Little is known about prevalence, awareness, and control of familial hypercholesterolemia (FH) in the United States. OBJECTIVE: To address these knowledge gaps, we developed an ePhenotyping algorithm for rapid identification of FH in electronic health records (EHRs) and deployed it in the Screening Employees And Residents in the Community for Hypercholesterolemia (SEARCH) study. METHODS: We queried a database of 131,000 individuals seen between 1993 and 2014 in primary care practice to identify 5992 (mean age 52 ± 13 years, 42% men) patients with low-density lipoprotein cholesterol (LDL-C) ≥190 mg/dL, triglycerides <400 mg/dL and without secondary causes of hyperlipidemia...
September 2016: Journal of Clinical Lipidology
Zahid S Ahmad, Rolf L Andersen, Lars H Andersen, Emily C O'Brien, Iris Kindt, Peter Shrader, Chandna Vasandani, Connie B Newman, Emil M deGoma, Seth J Baum, Linda C Hemphill, Lisa C Hudgins, Catherine D Ahmed, Iftikhar J Kullo, Samuel S Gidding, Danielle Duffy, William Neal, Katherine Wilemon, Matthew T Roe, Daniel J Rader, Christie M Ballantyne, MacRae F Linton, P Barton Duell, Michael D Shapiro, Patrick M Moriarty, Joshua W Knowles
BACKGROUND: In the US familial hypercholesterolemia (FH), patients are underidentified, despite an estimated prevalence of 1:200 to 1:500. Criteria to identify FH patients include Simon Broome, Dutch Lipid Clinic Network (DLCN), or Make Early Diagnosis to Prevent Early Deaths (MEDPED). The use of these criteria in US clinical practices remains unclear. OBJECTIVE: To characterize the FH diagnostic criteria applied by US lipid specialists participating in the FH Foundation's CASCADE FH (CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia) patient registry...
September 2016: Journal of Clinical Lipidology
Kah Lin Khoo, Michael M Page, Yin Mei Liew, Joep C Defesche, Gerald F Watts
BACKGROUND: Familial hypercholesterolemia (FH) leads to premature coronary artery disease and aortic stenosis, with undertreated severe forms causing death at a young age. Lipoprotein apheresis (LA) is often required for lowering low-density lipoprotein cholesterol levels in severe FH. OBJECTIVES: The objective of this study was to present the first experiences with LA in Malaysia, between 2004 and 2014. METHODS: We retrospectively collected data from patient records to assess the effectiveness, adverse effects, patient quality of life, and costs associated with an LA service for genetically confirmed homozygous and heterozygous FH...
September 2016: Journal of Clinical Lipidology
Thomas Knickelbine, Matthew Lui, Ross Garberich, Michael D Miedema, Craig Strauss, Jeffrey J VanWormer
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease resulting in elevated serum low-density lipoprotein cholesterol (LDL-C) levels. Patients with FH have a very high lifetime risk of cardiovascular disease, but FH often goes unrecognized in clinical care. New treatments including PCSK9 inhibitors are now available for this population, and the use of the electronic record may be able to help identify potential patients for therapy. OBJECTIVES: The goal of this study was to determine the period prevalence of FH in a large ambulatory care population, including the homozygous form...
September 2016: Journal of Clinical Lipidology
Gisle Langslet, Andrei Breazna, Euridiki Drogari
BACKGROUND: The efficacy and safety of atorvastatin in children/adolescents aged 10-17 years with heterozygous familial hypercholesterolemia (HeFH) have been demonstrated in trials of up to 1 year in duration. However, the efficacy/safety of >1 year use of atorvastatin in children/adolescents with HeFH, including children from 6 years of age, has not been assessed. OBJECTIVE: To characterize the efficacy and safety of atorvastatin over 3 years and to assess the impact on growth and development in children aged 6-15 years with HeFH...
September 2016: Journal of Clinical Lipidology
Martin Bødtker Mortensen, Imra Kulenovic, Ib Christian Klausen, Erling Falk
BACKGROUND: Familial hypercholesterolemia (FH) is a hereditary disease carrying a substantial lifetime risk of coronary heart disease. OBJECTIVE: To assess the prevalence of FH and its impact on age at presentation among unselected patients with first myocardial infarction (MI). METHODS: In a multi-center cross sectional study, we identified 1381 unselected patients presenting with a first MI between 2010 and 2012. Clinical FH was assessed using both the Dutch Lipid Clinic Network (DLCN) criteria and the Simon Broome criteria...
September 2016: Journal of Clinical Lipidology
Sophie Béliard, Aurélie Millier, Valérie Carreau, Alain Carrié, Philippe Moulin, Alexandre Fredenrich, Michel Farnier, Gérald Luc, David Rosenbaum, Mondher Toumi, Eric Bruckert
BACKGROUND: Heterozygous familial hypercholesterolemia (heFH) is a genetic disease causing high levels of low-density lipoprotein cholesterol (LDL-C). Although this population is at high cardiovascular (CV) risk, the risk is variable within patients depending on additional risk factors. CV disease risk groups have been defined by the Nouvelle Société Francophone d'Athérosclérose (NSFA) and by the National Lipid Association recommendations. OBJECTIVES: The study aimed to describe a sample of French heFH patients, comparing patients at very high risk (VHR) and patients at high risk in terms of demographic and clinical characteristics as well as biological measurements and disease management...
September 2016: Journal of Clinical Lipidology
Doris Handschel, Michiel Etienne Janssens, Marion Gericke, Stef De Reys, Helmut Borberg
BACKGROUND: As COBE Spectra has been replaced in many parts of the world, we describe a new protocol for low-density lipoprotein (LDL)-apheresis performed on familial hypercholesterolemia patients for the Spectra Optia platform. METHODS: For all procedures, after administering a bolus of heparin of 2,500 U, 10,000 U of heparin added to a 600 ml ACD-A bag was used as anticoagulant (AC). In a first phase (A), 16 apheresis procedures with COBE Spectra using an inlet:AC ratio of 25:1 were compared to 18 LDL-apheresis treatments with Spectra Optia at split Inlet:AC ratios of 16:1/18:1 or 20:1/25:1...
September 27, 2016: Journal of Clinical Apheresis
Allen J Orehek
Worldwide dementia related memory issues affect a great number of patients and families. In this case, a "senior moment" was noted at age fifty and issues with memory and mind progressed resulting in early retirement from work. The patient described here was given a diagnosis of "Pre-Alzheimer's disease" and presented for further accurate evaluation, diagnosis, and management. The medical management resulted in an improvement in the patients memory and cognitive ability.
2016: Case Reports in Neurological Medicine
Poovendran Saththasivam, Elizabeth Herrera, Gerald Lawrie, Odeaa Al Jabbari, Collin M Barker, Roy Sheinbaum
The MitraClip procedure is an emerging endovascular technique for treating mitral regurgitation and an attractive alternative for patients who are at high risk for open heart mitral valve repair or replacement. We present the case of a failed redo MitraClip procedure that led to acute right ventricular failure in a patient with homozygous familial hypercholesterolemia and a preexisting secundum atrial septal defect. We highlight the sequelae of the failed redo MitraClip procedure and the anesthetic challenges associated with the emergent redo sternotomy and cardiopulmonary bypass procedure required to replace the mitral valve and repair the tricuspid valve and atrial septal defect...
September 23, 2016: A & A Case Reports
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