Cascade Testing for Familial Hypercholesterolaemia(FH) Delyth Townsend BHF FH Nurse 28/06/2016.

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Cascade Testing for Familial Hypercholesterolaemia(FH) Delyth Townsend BHF FH Nurse 28/06/2016

Familial Hypercholesterolaemia Familial hypercholesterolaemia (FH) is an autosomal dominant disorder with an estimated frequency of 1 in 500 of the population. 28/06/2016

FH FH is believed to account for 10-20% of all early coronary heart disease (CHD) mortality. HOWEVER All cause mortality in those treated with FH is similar to that of the general population (Neil et al 2004) 28/06/2016

FH Diagnosis of FH is achieved via elevated cholesterol levels, clinical signs and family history of CHD. Currently only 25% of the 110,000 estimated individuals within the United Kingdom with FH are diagnosed. Within Wales there are approximately 6,000 individuals affected – 25% diagnosed. 28/06/2016

FH – Global perspectives 10,000,000 People with FH worldwide Mainly heterozygotes Approximately 80% remain undiagnosed 1,000 mutations described at the LDL-R locus 28/06/2016

Simon Broome Criteria Total cholesterol >7.5mmol/l or LDL-C >4.9mmol/l PLUS Definite – tendon xanthomata in patient or relative (1 st or 2 nd degree) or DNA evidence Possible – family history of MI ( 7.5mmol/l 28/06/2016

Cascade Screening Cascade screening is one method for identifying relatives of a particular heritable condition. 28/06/2016

Cascade Screening Once an affected proband or index individual is recognised, his or her first degree relatives are systematically identified, contacted and offered information, after which they can decide whether to undergo testing (Newson and Humphries 2005) 28/06/2016

Proband diagnosed, 1st degree relatives identified … Family Tracing is Efficient

28/06/2016 Family Tracing is Efficient … and tested

28/06/2016 Family Tracing is Efficient Repeat as needed

Process Identification of probands or index cases attending lipid clinics. Provision of verbal and written information. Assess suitability for genotyping Provision of family form to idenitfy first degree relatives for cascade screening 28/06/2016

Process Genotype positive – genetic counsellor to follow up family members Genotype negative – letters to family members to suggest cholesterol test 28/06/2016

14

Family History Physical Examination Of Index Case Untreated or corrected LDL-C concentrations (mmol/L) Fasting Triglycerides (mmol/L) Clinical History

FH Family Register

FH Project in Wales Web Site: 28/06/201625

28/06/2016