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Genetics familial hypercholesterolemia

Sandra Kutkienė, Žaneta Petrulionienė, Aleksandras Laucevičius, Rimantė Čerkauskienė, Artūras Samuilis, Virginija Augaitienė, Aurelija Gedminaitė, Gintarė Bieliauskienė, Akvilė Šaulytė-Mikulskienė, Justina Staigytė, Emilija Petrulionytė, Urtė Gargalskaitė, Eglė Skiauterytė, Gabija Matuzevičienė, Milda Kovaitė, Irena Nedzelskienė
BACKGROUND AND AIMS: Achilles tendon lesions have long been associated with genetic defects in lipid metabolism and increased risk of cardiovascular diseases (CVD). With this study we aimed to evaluate the usefulness of Achilles tendon ultrasonography in identifying people at greater risk among subjects with severe hypercholesterolemia (SH) in a high-risk population. METHODS: During the period of 2016-2017 a total of 213 participants were enrolled in this case-control study...
March 2019: Atherosclerosis. Supplements
I M Gaspar, A Gaspar
Familial hypercholesterolemia is an Mendelian dominant disorder characterized by defects of the low density lipoprotein receptor (LDLR) that result in a defective removal of LDL from plasma, which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and arteries (atherosclerosis). Diagnosis severe clinical phenotype FH with Dutch Lipid Clinic Network Criteria, encompassing history of premature ASCVD, tendon xanthomas, and a family history of hypercholesterolemia and premature ASCVD in relatives is rare in the Portuguese FH patients...
March 2019: Atherosclerosis. Supplements
Zesen Liu, Jie Peng, Shilong Wang, Tao Jiang, Weicong Zhang, Chun Zhang, Yan Chen, Kang Meng, Jie Lin
Homozygous familial hypercholesterolemia developed into severe cardiovascular consequences early. Untreated HoFH usually cannot survive over 30 years old. Acute coronary syndrome(ACS) caused by plaque rupture is one of the main causes of death in HoFH. As the highest resolution intravascular imaging technique, optical coherence tomography(OCT) can clearly show the thickness and structural characteristics of atherosclerotic plaque caps. In this study, a Chinese male HoFH received percutaneous coronary intervention for unstable angina...
March 2019: Atherosclerosis. Supplements
Jie Peng, Xue Wu, Shilong Wang, Shuang Zhang, Xumin Wang, Zesen Liu, Jing Hong, Pucong Ye, Jie Lin
AIMS: To investigate the status of familial hypercholesterolemia (FH) research and the characteristics of patients with FH in China. METHODS: Published papers in Chinese or English language from PubMed, SinoMed and CNKI databases from 1971 to March 2018 were searched using 'Familial hypercholesterolemia', 'Chinese' and 'Han' as keywords. A systematic review of studies on familial hypercholesterolemia was then conducted. RESULTS: A total of 391 articles were found, in which 22% were in English and 78% were in Chinese; approximately 43% are case reports and 34% are genetic reports according to the study type; 52% discussed the status of the disease and 11% investigated the subclinical status according to the study content...
March 2019: Atherosclerosis. Supplements
Leo E Akioyamen, Jack V Tu, Jacques Genest, Dennis T Ko, Alexandre J S Coutin, Shubham D Shan, Anna Chu
Heterozygous familial hypercholesterolemia (HeFH) is a common genetic disorder predisposing affected individuals to lifelong low-density lipoprotein cholesterol (LDL-C) elevation and coronary heart disease. However, whether HeFH increases the risk of peripheral arterial disease (PAD) and ischemic stroke is undetermined. We examined associations between HeFH and these outcomes in a comprehensive systematic review and meta-analysis. We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, and PubMed (for ahead-of-print publications) for relevant English-language studies...
March 14, 2019: Angiology
Gemma Chiva-Blanch, Teresa Padró, Rodrigo Alonso, Javier Crespo, Leopoldo Perez de Isla, Pedro Mata, Lina Badimon
Objective- Heterozygous familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular disease (CVD). Circulating microvesicles (cMV) are released when cells are activated. We investigated whether cMV could provide information on coronary calcification and atherosclerosis in FH patients. Approach and Results- Eighty-two patients (mean of 44±9 years old) with molecular diagnosis of heterozygous FH and asymptomatic cardiovascular disease were investigated...
March 14, 2019: Arteriosclerosis, Thrombosis, and Vascular Biology
Mohammad Javad Ghorbani, Nematollah Razmi, Seyed Mohammad Bagher Tabei, Mohammad Javad Zibaeenezhad, Hamid Reza Goodarzi
Introduction: Coronary artery diseases (CAD) are the most common causes of death. Myocardial infarction (MI) is a complex multifactorial and the most severe type of CAD. Early onset MI in a first-degree relative could be defined as an independent risk factor for CAD. This study was performed to investigate the genetic cause of early onset familial CAD. Material and methods: In this study, the genetic cause of familial CAD was investigated in patients with a family history of CAD who underwent angiography before the age of 50 years...
2019: Archives of Medical Sciences. Atherosclerotic Diseases
Pierre Sabouret, Michel Farnier, Etienne Puymirat
PCSK9 protein is a key regulator of LDL receptor activity. Gain-of-function mutations in PCSK9 are one of the genetic causes of familial hypercholesterolemia. Conversely, loss-of-function mutations are associated with lower levels of LDL cholesterol and reduced coronary heart disease. Monoclonal antibodies targeting PCSK9 are highly efficacious in lowering LDL-C levels, with a good tolerability and safety profile. Two PCSK9 inhibitors, alirocumab and evolocumab, have demonstrated a cardiovascular benefit in addition to statin therapy in patients with established cardiovascular disease...
March 7, 2019: La Presse Médicale
Katrina L Ellis, Leopoldo Pérez de Isla, Rodrigo Alonso, Francisco Fuentes, Gerald F Watts, Pedro Mata
BACKGROUND: Familial hypercholesterolemia (FH) and elevated lipoprotein(a) [Lp(a)] are inherited disorders associated with premature atherosclerotic cardiovascular disease (ASCVD). Cascade testing is recommended for FH, but there are no similar recommendations for elevated Lp(a). OBJECTIVES: This study investigated whether testing for Lp(a) was effective in detecting and risk stratifying individuals participating in an FH cascade screening program. METHODS: Family members (N = 2,927) from 755 index cases enrolled in SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) were tested for genetic FH and elevated Lp(a) via an established screening program...
March 12, 2019: Journal of the American College of Cardiology
Jing Pang, Dick C Chan, Miao Hu, Lauretta A Muir, See Kwok, Min-Ji Charng, Christopher M Florkowski, Peter M George, Jie Lin, Do Doan Loi, A David Marais, Hapizah M Nawawi, Lourdes E Gonzalez-Santos, Ta-Chen Su, Thanh Huong Truong, Raul D Santos, Handrean Soran, Brian Tomlinson, Shizuya Yamashita, Zanfina Ademi, Gerald F Watts
BACKGROUND: There is a lack of information on the health care of familial hypercholesterolemia (FH). OBJECTIVE: The objective of this study was to compare the health care of FH in countries of the Asia-Pacific region and Southern Hemisphere. METHODS: A series of questionnaires were completed by key opinion leaders from selected specialist centers in 12 countries concerning aspects of the care of FH, including screening, diagnosis, risk assessment, treatment, teaching/training, and research; the United Kingdom (UK) was used as the international benchmark...
January 25, 2019: Journal of Clinical Lipidology
Ilse K Luirink, Marjet J A M Braamskamp, Albert Wiegman, Merel L Hartgers, Barbara Sjouke, Joep C Defesche, G Kees Hovingh
BACKGROUND: Homozygous familial hypercholesterolemia (hoFH) is either diagnosed on the identification of pathogenic genetic variants in LDLR, APOB, or PCSK9 or by phenotypic parameters of which an extremely elevated LDL-C level >13 mmol/L (>500 mg/dL) is the most prominent hallmark. Little is known about the clinical spectrum in children with hoFH. OBJECTIVE: We set out to investigate the phenotypical spectrum of genetically defined hoFH in our pediatric cohort and evaluated how many pediatric patients, now classified as heterozygous, carry a second mutation, which would reclassify these patients as hoFH...
December 19, 2018: Journal of Clinical Lipidology
Xueying Su, Yongxian Shao, Yunting Lin, Xiaoyuan Zhao, Wen Zhang, Minyan Jiang, Yonglan Huang, Chunhua Zeng, Li Liu, Xiuzhen Li
Sitosterolemia is a rare autosomal recessive disease characterized by a significant increase in blood plant sterol levels. Clinical manifestations usually include xanthomas, hypercholesterolemia,premature atherosclerosis and hematological abnormalities. We report here a sitosterolemia patient who presented with multiple xanthomas and profound hypercholesterolemia since 3 years old. The girl was mistreated as familial hypercholesterolemia for 6 years until correct diagnosis was made by detecting serum plant cholesterol levels...
January 22, 2019: Journal of Clinical Lipidology
Eric W Klee, Michael T Zimmermann
Genetic variants in low-density lipoprotein receptor (LDLR) are known to cause familial hypercholesterolemia (FH), occurring in up to 1 in 200 people (Youngblom E. et al. 1993 and Nordestgaard BG et al. 34:3478-3490a, 2013) and leading to significant risk for heart disease. Clinical genomics testing using high-throughput sequencing is identifying novel genomic variants of uncertain significance (VUS) in individuals suspected of having FH, but for whom the causal link to the disease remains to be established (Nordestgaard BG et al...
February 18, 2019: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
Martine Paquette, Sophie Bernard, Alexis Baass
BACKGROUND AND AIMS: Several clinical and genetic factors have been shown to modulate the cardiovascular risk in subjects affected by familial hypercholesterolemia (FH). Genome wide association studies (GWAS) in the general population have identified several single nucleotide polymorphisms (SNPs) significantly associated with the risk of cardiovascular disease (CVD). This include the rs2048327 variant in the SLC22A3 gene. However, the effect of this SNP in FH subjects is unknown. The objectives of this study are to investigate the association between rs2048327 and the prevalence of CVD as well as with the concentration of lipoprotein (a) (Lp (a)), in a cohort of genetically-confirmed heterozygous FH patients...
February 14, 2019: Clinical Biochemistry
Ashish Sarraju, Joshua W Knowles
Familial Hypercholesterolemia (FH) is an inherited lipid disorder affecting 1 in 220 individuals resulting in highly elevated low-density lipoprotein levels and risk of premature coronary disease. Pathogenic variants causing FH typically involve the LDL receptor ( LDLR ), apolipoprotein B-100 ( APOB ), and proprotein convertase subtulisin/kexin type 9 genes ( PCSK9 ) and if identified convey a risk of early onset coronary artery disease (ASCVD) of 3- to 10-fold vs. the general population depending on the severity of the mutation...
2019: Frontiers in Cardiovascular Medicine
Seohyuk Lee, Leo E Akioyamen, Sumayah Aljenedil, Jean-Baptiste Rivière, Isabelle Ruel, Jacques Genest
AIMS: Familial hypercholesterolemia (FH) is the most common genetic disorder in medicine, with a prevalence of 1/250. Affected individuals have elevated low-density lipoprotein cholesterol (LDL-C) and an increased lifetime risk of atherosclerotic cardiovascular disease (ASCVD). The diagnosis of FH is based on algorithms that include LDL-C levels, physical manifestations, family history of high LDL-C and premature ASCVD, and, more recently, genetic testing. We sought to determine the impact of genetic testing on the: 1) diagnosis of 'definite familial hypercholesterolemia', 2) initiation and adherence of lipid-lowering therapy and 3) risk of ASCVD...
February 12, 2019: European Journal of Preventive Cardiology
Mika Hori, Eiji Miyauchi, Cheol Son, Mariko Harada-Shiba
BACKGROUND: More than 2500 variants of the low-density lipoprotein receptor (LDLR) gene have been reported in familial hypercholesterolemia (FH). However, the effects of these variants on the pathophysiology of FH have not been fully clarified. OBJECTIVE: Our aim was to examine whether the c.2579C>T (p.A860V) variant of the LDLR gene affects the phenotype of FH. We present 2 index cases harboring biallelic LDLR variants, including the c.2579C>T (p.A860V) variant, which is defined as having uncertain significance in ClinVar...
January 16, 2019: Journal of Clinical Lipidology
Rachele M Hendricks-Sturrup, Christine Y Lu
Cardiovascular disease (CVD) is the leading cause of death in the United States (US), with familial hypercholesterolemia (FH) being a major inherited and genetic risk factor for premature CVD and atherosclerosis. Genetic testing has helped patients and providers confirm the presence of known pathogenic and likely pathogenic variations in FH-associated genes. Key organizations, such as the Centers for Disease Control and Prevention (CDC), American Heart Association (AHA), FH Foundation, and National Lipid Association (NLA), have recognized the clinical utility of FH genetic testing...
February 1, 2019: Journal of Personalized Medicine
Maria Donata Di Taranto, Renato de Falco, Ornella Guardamagna, Giulia Massini, Carola Giacobbe, Renata Auricchio, Basilio Malamisura, Michela Proto, Daniela Palma, Luigi Greco, Giuliana Fortunato
Background Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in genes involved in low-density lipoprotein (LDL) uptake (LDLR, APOB and PCSK9). Genetic diagnosis is particularly useful in asymptomatic children allowing for the detection of definite FH patients. Furthermore, defining their genetic status may be of considerable importance as the compound heterozygous status is much more severe than the heterozygous one. Our study aims at depicting the genetic background of an Italian pediatric population with FH focusing on the correlation between lipid profile and genetic status...
February 2, 2019: Clinical Chemistry and Laboratory Medicine: CCLM
Savvas Hadjiphilippou, Kausik K Ray
Cardiovascular disease (CVD) remains the leading cause of death worldwide. To date, decades of research has established LDL-C (low-density lipoprotein cholesterol) as a causal factor in the development of atherosclerotic CVD. Statin therapy, supported by a broad evidence base, has demonstrated its superior efficacy in reducing LDL-C and subsequent cardiovascular risk. It therefore currently forms the mainstay of lipid-lowering therapy as recommended by international guidelines. Statin therapy is indicated in the secondary prevention of atherosclerotic CVD, as well as genetic causes of dyslipidemia (such as familial hypercholesterolemia)...
February 2019: Circulation Research
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