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Familiar Hypercholesterolemia

Mohammed Ali Batais, Turky H Almigbal, Aref A Bin Abdulhak, Hani B Altaradi, Khalid F AlHabib
BACKGROUND: The scarcity of familial hypercholesterolemia (FH) cases reported in Saudi Arabia might be indicative of a lack of awareness of this common genetic disease among physicians. OBJECTIVE: To assess physicians' awareness, practice, and knowledge of FH in Saudi Arabia. METHODS: This is a cross-sectional study conducted among physicians at four tertiary hospitals in Riyadh, Saudi Arabia between March 2016 and May 2016 using a self-administered questionnaire...
2017: PloS One
Fernando Civeira, Sofia Perez-Calahorra, Rocio Mateo-Gallego
Xanthelasmas are superficial fat deposits around the eyelids commonly present in different hyperlipidemias and associated with increased cardiovascular risk. Statins or other lipid-lowering treatments do not usually modify them. We present the case of a middle-age man with severe high levels of LDL cholesterol from youth due to a genetically defined heterozygous familiar hypercholesterolemia (HeFH). He presented large xanthelasmas of both inner eyelids in spite of long term treatment with statins and ezetimibe that disappeared after treatment with alirocumab75 mg every 2 weeks for 26 months...
September 2016: Journal of Clinical Lipidology
D Müller-Wieland, N Marx
Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to low-density lipoprotein (LDL) receptors leading to their degradation in the liver. Inhibition of PCSK9 leads to an increase in LDL receptors and as a result to a reduction of LDL cholesterol in blood. Currently, two antibodies against PCSK9 are available for clinical treatment in Germany, evolocumab (Repatha®) and alirocumab (Praluent®). Clinical studies have shown that treatment with these antibodies, which must be subcutaneously injected by patients every 2 or 4 weeks, in addition to an already existing lipid therapy can lower the LDL cholesterol level in blood by an average of 50-60 %...
June 2016: Herz
Richard J Chung, Currie Touloumtzis, Holly Gooding
Approaches to the prevention and management of cardiovascular disease (CVD) are often too narrow in scope and initiated too late. While the majority of adolescents are free of CVD, far fewer are free of CVD risk factors, especially lifestyle factors such as poor exercise and dietary habits. Most clinicians are familiar with behavioral and pharmacologic strategies for modifying these and other traditional CVD risk factors such as hypertension, hypercholesterolemia, and diabetes. In this review, we highlight those strategies most applicable to teens and also propose fundamental reframing that recognizes the importance of early choices and life experiences to achieving cardiovascular health...
December 2015: Current Treatment Options in Cardiovascular Medicine
Hong-Mei Gu, Da-Wei Zhang
Atherosclerotic cardiovascular disease is the main cause of mortality and morbidity in the world. Plasma levels of low density lipoprotein cholesterol (LDL-C) are positively correlated with the risk of atherosclerosis. High plasma LDL concentrations in patients with hypercholesterolemia lead to build-up of LDL in the inner walls of the arteries, which becomes oxidized and promotes the formation of foam cells, consequently initiating atherosclerosis. Plasma LDL is mainly cleared through the LDL receptor (LDLR) pathway...
September 2015: Journal of Biomedical Research
Meral Kaylkçioğlu
Familiar hypercholesterolemia (FH) is genetic disease characterized with extremely high levels of cholesterol leading to cholesterol deposition in skin and tissues and premature atherosclerosis due to defective LDL receptors. In homozygous individuals (HoFH) premature cardiovascular (CV) events and aortic stenosis could develop at very early ages due to the exposure of the vessels including aorta to high lipid levels since birth. Patients with HoFH do not respond to conventional antilipid agents including statins due to defective LDL receptors...
October 2014: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Jing Pang, David R Sullivan, Mariko Harada-Shiba, Phillip Y A Ding, Sheryl Selvey, Shariq Ali, Gerald F Watts
BACKGROUND: Familial hypercholesterolemia (FH) is a dominantly inherited disorder characterized by high plasma cholesterol levels and a very high risk of early heart disease. The prevalence of FH is estimated to be at least 1:500, with at least 3.6 million individuals in the Asia-Pacific region. OBJECTIVE: To assess awareness, knowledge, and perception of FH among practicing physicians in Japan, South Korea, and Taiwan. METHODS: Physicians from 3 economically developed Asian countries were requested to anonymously complete a structured Internet-based survey regarding FH...
January 2015: Journal of Clinical Lipidology
Meral Kayıkçıoğlu, Erkan Kısmalı, Levent Can, Serdar Payzin
OBJECTIVES: Familiar hypercholesterolemia (FH) is a genetic disease characterized with extremely high levels of cholesterol leading to premature atherosclerosis. In homozygous individuals (HoFH) cardiovascular events could develop in childhood. In this article, long-term clinical experience with adult HoFH patients who are followed in Department of Cardiology, Ege University Faculty of Medicine is presented. STUDY DESIGN: Seventeen HoFH patients (11 females, 6 males) who are being followed between the years 2000-2013 were included...
October 2014: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Gian Paolo Fadini, Francesco Simoni, Roberta Cappellari, Nicola Vitturi, Silvia Galasso, Saula Vigili de Kreutzenberg, Lorenzo Previato, Angelo Avogaro
Monocyte-macrophages (MoMas) play a major role in atherosclerosis. In mice, hypercholesterolemia increases pro-inflammatory monocytes that promote plaque growth, but whether this is true also in humans in unknown. We herein analyzed monocyte subsets and MoMa phenotypes in familiar (FH, n = 22) and non-familiar (NFH, n = 20) hypercholesterolemic compared with normocholesterolemic (CTRL, n = 20) patients. We found that FH and NFH had higher circulating pro-inflammatory CD68(+)CCR2(+) M1 MoMas than CTRL, while anti-inflammatory CX3CR1(+)CD163(+)/CD206(+) M2 MoMas were reduced only in NFH...
December 2014: Atherosclerosis
Tanna H Lim, Israel B Orija, Brian L Pearlman
The new American College of Cardiology/American Heart Association blood cholesterol guidelines of 2013 are the first major revision of cholesterol therapy guidance in over a decade. Commonly used low-density lipoprotein cholesterol (LDL-C) target goals have been abrogated in favor of intensity of statin therapy, more in line with data from randomized clinical trials. Four groups of adult patients have been identified from these studies who will most benefit from statins: patients with atherosclerotic cardiovascular disease (ASCVD); patients with primary elevations of LDL-C ≥ 190 mg/dL; diabetic patients between age 40 and 75 years without ASCVD whose LDL-C is between 70 and 189 mg/dL; and patients between age 40 and 75 years without ASCVD or diabetes with LDL-C between 70 and 189 mg/dL and an estimated 10-year ASCVD risk of 7...
November 2014: Postgraduate Medicine
Ada Cuevas, María Magdalena Farías, Rodrigo Alonso
Statins are the preferred treatment for hypercholesterolemia and several studies have demonstrated their long-term safety and efficacy in reducing cardiovascular morbidity and mortality. However, in some cases of severe hypercholesterolemia such as homozygous and heterozygous familial hypercholesterolemia or statin intolerant patients, statins can be less efficient. In recent years, new lipid-lowering agents with novel mechanisms of action have been developed to reduce LDL-cholesterol in patients with severe hypercholesterolemia, associated or not to conventional lipid-lowering therapy...
July 2014: Revista Médica de Chile
Kenechukwu Chudy-Onwugaje, Nnaemeka Anyadike, Yuriy Tsirlin, Ira Mayer, Rabin Rahmani
We report a case of non-Hodgkin's lymphoma (NHL) with an unusual initial manifestation as severe hypercholesterolemia and obstructive jaundice in a patient with neurofibromatosis type 1 (NF 1). NHL should be considered in the evaluation of obstructive jaundice alone or in combination with severe hypercholesterolemia. Relief of biliary obstruction led to the resolution of hypercholesterolemia in our 59-year-old male patient, followed by doxorubicin-based chemotherapy for the underlying lymphoma. NF 1 is a genetic condition that results from a defect in a tumor-suppressor gene and it is likely that this led to the development of NHL in our patient...
2014: Case Reports in Gastrointestinal Medicine
S Naran, A Hudovsky, J Antscherl, S Howells, S A R Nouraei
We aimed to study the accuracy of clinical coding within oral surgery and to identify ways in which it can be improved. We undertook did a multidisciplinary audit of a sample of 646 day case patients who had had oral surgery procedures between 2011 and 2012. We compared the codes given with their case notes and amended any discrepancies. The accuracy of coding was assessed for primary and secondary diagnoses and procedures, and for health resource groupings (HRGs). The financial impact of coding Subjectivity, Variability and Error (SVE) was assessed by reference to national tariffs...
October 2014: British Journal of Oral & Maxillofacial Surgery
Ales Zak, Miroslav Zeman, Adolf Slaby, Marek Vecka
BACKGROUND: Xanthomas are well circumscribed lesions in the connective tissue of the skin, tendons or fasciae that predominantly consist of foam cells; these specific cells are formed from macrophages as a result of an excessive uptake of low density lipoprotein (LDL) particles and their oxidative modification. RESULTS: Until recently, xanthelasma was considered to be only a cosmetic lesion; however, according to the results of recent prospective studies it is connected with an increased cardiovascular risk and reduced average lifespan...
June 2014: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
Juan Martínez-Oliván, Zuriñe Rozado-Aguirre, Xabier Arias-Moreno, Vladimir E Angarica, Adrián Velázquez-Campoy, Javier Sancho
The low-density lipoprotein receptor (LDLR) captures circulating lipoproteins and delivers them in the endosome for degradation. Its function is essential for cholesterol homeostasis, and mutations in the LDLR are the major cause of familiar hypercholesterolemia. The release of LDL is usually attributed to endosome acidification. As the pH drops, the affinity of the LDLR/LDL complex is reduced, whereas the strength of a self-complex formed between two domains of the receptor (i.e. the LDL binding domain and the β-propeller domain) increases...
June 2014: FEBS Journal
Ana M Bea, Rocío Mateo-Gallego, Estíbaliz Jarauta, Rosa Villa-Pobo, Pilar Calmarza, Itziar Lamiquiz-Moneo, Ana Cenarro, Fernando Civeira
INTRODUCTION: Several studies have suggested that Lp(a) could be a risk factor mainly in hypercholesterolemic patients. METHODS: A total of 909 individuals were selected for this study. 307 were diagnosed of familiar hypercholesterolemia with a pathogenic mutation in LDLR or APOB genes (FH+), 291 of familiar combined hyperlipidemia (FCH) and 311 of familial hypercholesterolemia without a pathogenic mutation in LDLR nor APOB genes (FH-). Main risk factor were studied, included statin treatment...
July 2014: Clínica e Investigación en Arteriosclerosis
Na-Qiong Wu, Yuan-Lin Guo, Rui-Xia Xu, Jun Liu, Cheng-Gang Zhu, Li-Xin Jiang, Jian-Jun Li
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, inherited metabolic disease, caused by low-density lipoprotein (LDL) receptor abnormality, consequently leading to an increase of serum levels of LDL cholesterol (LDL-C). Clinically, this disease is characterized by the deposition of LDL-C in skin, tendons, and arterial wall. Children with HoFH develop significant coronary artery disease (CAD) in the first decade of life and frequently die of myocardial infarction (MI) before 20 years of age...
2013: Clinical Laboratory
Brian M Radvansky, Qasim Husain, Deepa V Cherla, Osamah J Choudhry, Jean Anderson Eloy
BACKGROUND: Advances in endoscopic sinus surgery have led to a greater number of in-office procedures away from the traditional operating room setting. Rhinologists acting independently of anesthesiologists must be prepared for potential complications, such as vasovagal response (VVR), that may arise during in-office rhinologic manipulations. In this study, we review our experience with this condition and discuss risk factors and a management algorithm for in-office VVR. METHODS: A retrospective analysis at a large tertiary referral center was performed on all patients undergoing in-office endoscopic procedures with rhinologic manipulation between July 2008 and June 2012...
June 2013: International Forum of Allergy & Rhinology
Judit Cubedo, Teresa Padró, Rodrigo Alonso, Juan Cinca, Pedro Mata, Lina Badimon
UNLABELLED: Inflammation is a common condition contributing to cardiovascular disease progression which leads to clinical manifestations such as acute myocardial infarction (AMI). By applying a proteomic expression profiling approach we have investigated changes in transthyretin (TTR) in AMI-patients and its distribution patterns in HDL samples of patients with high cardiovascular risk, such as those with familiar hypercholesterolemia (FH). METHODS AND RESULTS: The characterization by bidimensional electrophoresis (2-DE), followed by mass-spectrometry (MALDI-TOF) of serum samples revealed changes in the intensity of the TTR spot with a pI of 5...
May 2012: Atherosclerosis
John M Hudson, Petra M J Pollux, Bejal Mistry, Sara Hobson
OBJECTIVES: Alzheimer's disease (AD) represents one of the most debilitating conditions affecting the elderly. Despite the prevalence and consequences of AD, surveys have revealed that the general public in North America and Australia hold numerous misconceptions of the disease. The aim of this study was to examine whether misconceptions of AD are also endorsed by adults in Britain. METHOD: The Alzheimer's disease knowledge scale (ADKS) was completed by 312 adults residing in Lincolnshire, UK...
2012: Aging & Mental Health
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