Familial Hypercholesterolaemia

Familial Hypercholesterolemia (FH) is a heritable condition which causes significant elevations of plasma cholesterol and increased risk of cardiovascular disease.  The effects of elevated cholesterol on the vasculature can be observed from childhood.

 

Early intervention with cholesterol lowering treatment effectively lowers cholesterol concentrations and substantially reduces cardiovascular disease.  However, it is estimated that only 15% of affected individuals are clinically diagnosed each year in the UK. To date, mutations in three key genes involved in the low density lipoprotein cholesterol (LDL-C) metabolic pathway, which predispose to elevated cholesterol levels, have been identified. 

 

Genetic screening of families of individuals with a clinical and genetic diagnosis of the condition provides an effective method of improving early diagnosis of the condition. The recent roll-out of an All-Wales genetic cascade screening programme for familial hypercholesterolemia (All-Wales FH testing Service) aims to reduce the social, economic and emotional burden of this under diagnosed condition.

 

There are strong links with the Wales Gene Park who support a research officer post and also the patient and family forum via the Genetic Alliance.

 

 

 

Townsend D, Williams B, Rees A, Williams J, Matthews S, Rowlands P, McDowell I.  A survey of needs from a patient forum for familial hypercholesterolaemia (FH) Atherosclerosis 2007;  194: 285.

 

McDowell I, Watson M, Townsend D, Featherstone K, Parham K, Whatley S. An evaluation of DNA diagnostics for familial hypercholesterolaemia including a study of personal and family implications. (Abstract) Atherosclerosis 2007; 194: 282.

 

Development of a DNA microarray for the detection of mutations causing familial hypercholesterolaemia  Proceedings ACB 2008 Christopher Boot, Ian McDowell, Sharon Whatley, Ming Hong Shen, Ian Frayling and Meena Upadhyaya ACB Poster and abstract

 

Publication of web site for Patient Support group for Familial Hypercholesterolaemia (www.fhwales.co.uk)- Awarded first prize for poster at Heart UK 2008

 

DeMott K, Nherera L, Shaw EJ, Minhas R, Humphries SE, Kathoria M, Ritchie G, Nunes V, Davies D, Lee P, McDowell I, Neil A, Qureshi N, Rowlands P, Seed M, Stracey H, Thorogood M, Watson M. Clinical Guidelines and Evidence Review for Familial hypercholesterolaemia: the identification and management of adults and children with familial hypercholesterolaemia.. London: National Collaborating Centre for Primary Care and Royal College of General Practitioners NICE clinical guideline www.nice.org.uk/CG071 (2008)

 

McDowell IFW, Hadfield G and Humphries SE Chapter on Familial Hypercholesterolaemia in "Clinical Cardiovascular Genetics, Principles and Practice"  Publ Oxford University Press.  2010 eds Kumar D and Elliot P.

 

Familial hypercholesterolaemia screening - application of genetic testing and diagnostic LDL-C cut-off values for relatives of FH patients in a Welsh population.  Lee WP, Ong BB, Haralambos K, Townsend D, Rees JAE, Williams EJ, Halcox JP, McDowell I European Heart J. 31. (2010)  812

 

Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia.  Datta BN, McDowell IF, Rees A Curr Opin Lipidol 21 2010   366-371

 

Development of Register and Website Resources to Support a Familial Hypercholesterolaemia (FH) Family Cascade Testing Programme  Haralambos K, Townsend D, Williams B, Rees A, Williams J, Diaz J, de Rond M, van Vliet J, Kindt I, Lansberg P, McDowell IFW