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
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.
Blood screening that is preventing heart attacks – The Guardian, 22 January 2013.
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
Development of a
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..
McDowell IFW, Hadfield G and Humphries SE Chapter on Familial Hypercholesterolaemia in "Clinical Cardiovascular Genetics, Principles and Practice"
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
Last updated: 24/01/2013