familial hypercholesterolaemia
Genetic Causes of Familial Hypercholesterolaemia in a Malaysian Population
... Genetic Causes of Familial Hypercholesterolaemia in a Malaysian Population ORIGINAL ARTICLE Genetic Causes of Familial Hypercholesterolaemia in a Malaysian Population iii K L Khoo, FRCP*, P Van Acker*[.] ...
10
Feasibility of improving identification of familial hypercholesterolaemia in general practice: intervention development study
... (Familial Hypercholesterolaemia Case Acertainment Tool) 27 from routinely available data, held in primary care EHRs, takes into account patients already on statins, secondary causes of raised cholesterol, ...
8
Target achievement and cardiovascular event rates with Lomitapide in homozygous Familial Hypercholesterolaemia
... Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic condition characterised by markedly ele- vated low-density lipoprotein-cholesterol (LDL-C) levels, inadequate response to conventional drug ...
6
Sex-associated effect of CETP and LPL polymorphisms on postprandial lipids in familial hypercholesterolaemia
... for familial hypercholes- terolaemia (hFH), and especially men, have more pro- nounced postprandial hypertriglyceridaemia than controls ...of familial hypercholesterolaemia or ...
14
Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review
... Background: Familial hypercholesterolaemia (FH) is the most common inherited metabolic disease with an autosomal dominant mode of ...severe hypercholesterolaemia, (TC = ...
8
The genetics and screening of familial hypercholesterolaemia
... Familial Hypercholesterolaemia is a significant risk factor for cardiovascular disease, the leading cause of death ...globally. Familial Hypercholesterolaemia is an autosomal, dominant genetic ...
12
Design of the familial hypercholesterolaemia australasia network registry: Creating opportunities for greater international collaboration
... Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical manage- ...on Familial Hypercholesterolaemia of the European Athero- ...
10
Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia
... with familial hypercholesterolaemia as the life expectancy (expected age at death) with statin treatment minus the life expectancy in the absence of treatment for each age and sex ...heterozygous ...
7
A Novel Mutation in Exon 5 of the Low Density Lipoprotein Receptor Gene in a Malay Family with Familial Hypercholesterolaemia (FH)
... Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disease of lipid metabolism caused by mutations in the low density lipoprotein receptor (LDLR) ...
9
Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
... Familial hypercholesterolaemia (FH) is an autosomal dominant in- herited disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth ...
10
Enhanced status of inflammation and endothelial activation in subjects with familial hypercholesterolaemia and their related unaffected family members: a case control study
... FCH: Familial combined hyperlipidaemia; FH: Familial hypercholesterolaemia; FPG: Fasting plasma glucose; fT4: Free thyroxine; hsCRP: High sensitivity C-Reactive Protein; IFCC: International ...
12
How do the experiences and beliefs of adults and children with heterozygous familial hypercholesterolaemia influence their adherence to treatment? A systematic review of qualitative evidence protocol
... Familial hypercholesterolaemia (FH) is an autosomal dominant hereditary disorder, characterised by markedly elevated levels of low-density lipoprotein (LDL) cholesterol from birth ...
6
The reduced cost of providing a nationally recognised service for familial hypercholesterolaemia
... of familial hypercholesterolaemia service in Southampton, Hampshire, Isle of Wight and Portsmouth area: National Institute for Health and Care Excellence with atorvastatin off patent compared to three ...
11
The management of familial hypercholesterolaemia with statinassociated muscle symptoms N
... (CK). Familial hypercholesterolaemia (FH), diagnosed based on the clinical features seen in patients with a positive family history, constitutes a heritable disorder involving a single ...with ...
6
Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis
... Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis.. Fiona J Kinnear, 1 Elaine Wainwright, 2,3 Rachel [r] ...
18
Strategies for identifying familial hypercholesterolaemia in non specialist clinical settings
... Familial hypercholesterolaemia (FH) is an autosomal-dominant disease and has long been recognized as a cause of premature coro- nary heart disease (CHD) (Nordestgaard ...
20
Measurement of Intima Media Thickness of Common Carotid Arteries Using Ultrasound in Patients with Familial and Non Familial Hypercholesterolaemia and Correlation of Intima Media Thickness to Obesity
... Measurement of Intima Media Thickness of Common Carotid Arteries Using Ultrasound in Patients with Familial and Non Familial Hypercholesterolaemia and Correlation of Intima Media Thickness to Obesity[.] ...
6
Cost utility analysis of searching electronic health records and cascade testing to identify and diagnose familial hypercholesterolaemia in England and Wales
... 1. People with a current clinical diagnosis of FH: Most of this subpopulation incur a cost to undergo a genetic test to determine their family mutation according to the take up rate of genetic testing for current index ...
42
Cost utility analysis of searching electronic health records and cascade testing to identify and diagnose familial hypercholesterolaemia in England and Wales
... assumed to be the same in the FH population as in the general population due to a lack of evidence on the adult FH population identified in the systematic review conducted for the 2017 update to the NICE guideline. ...
29
Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)
... The study also highlights the importance of systematically col- lecting family histories in those individuals having cardiovascular risk assessment. We found family histories of MI, FH, or raised cholesterol were ...
8