Risk equivalents in hyperlipidaemia

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<ul><li><p>elevated total cholesterol of more than 7.5 mmol/L. 4 of them did nothave family history of hypercholesterolaemia or premature ischaemic</p><p>At the time of the launch of the all Wales FH testing service, December</p><p>rosiResults: Three specialist BHF FH nurses have helped to develop lipid servicesacross Wales, doubling numbers of FH/lipid clinics from 8 to 16. Referralrates from primary/secondary care have increased by 19% in the rst yearand 132% in the second year, with over 1000 index patients assessed clin-ically for FH. Of these, 780 have been genotyped and 270 have received agenetic diagnosis (35%). Family cascade testing by genetic counsellors, usingidentied FH genetic mutations, has led to 222 relatives being diagnosedwith FH and 181 being reassured that they do not have FH.We conclude that FH specialist nurses have a key role to play in thedevelopment and delivery of FH services.</p><p>IMPLEMENTATION OF FAMILIAL HYPERCHOLESTEROLAEMIA(FH)NURSE LED ASSESSMENT CLINICS IN SOUTH WALES</p><p>R. Edwards 1,*, N. El Farhan 2, S. Woods 2, H. Hopcroft 2, D. Townsend 1, R.Gingell 1, K. Haralambos 3, B.N. Datta 4, I.F.W. McDowell 4, L. Edmunds 4.</p><p>1All Wales FH Cascade Testing Service, All Wales Medical Genetics Service,heart disease. 29 individuals had cholesterol level higher than 6.5 mmol/Lbut less than 7.5mmol/L. 22 of them had no family history ofhypercholesterolaemia.</p><p>Conclusion: Reported incidence of heterogenous hypercholesterolaemia is1 in 500. In our study it is 5 in 500. Out of them 2.5 in 500 did not havefamily history of hypercholesterolaemia or premature cardiac disease.These gures indicate signicant number of healthy individuals in generalpopulation with no risk factors have elevated cholesterol levels whichwarrants screening for familial hypercholesterolaemia.</p><p>IMPLEMENTATION OF A MULTIDISCIPLINARY APPROACH TO DIAGNOSISAND MANAGEMENT OF FAMILIAL HYPERCHOLESTEROLAEMIA (FH) INWALES: THE ROLE OF THE FH SPECIALIST NURSE</p><p>R. Edwards 1,*, D. Townsend 1, R. Gingell 1, K. Haralambos 2, B.N. Datta 3, I.F.W.McDowell 3, L. Edmunds 3.</p><p>1All Wales FH Cascade Testing Service, UK; 2Cardiff University, UK; 3Cardiffand Vale University Health Board, UK</p><p>* Corresponding author.</p><p>The Wales FH service, launched in Sept 2010 has been developed based onNICE guidance to provide a coordinated approach to cascade testing for FHand other aspects of diagnosis and clinical management. Prior to this therewas no cascade testing offered and inequitable service provision.</p><p>BHF FH nurses have been central to a variety of different developmentsincluding</p><p>- Increased awareness of FH and access to specialist services, includinggenetic testing, for index patients and their families</p><p>- Multi-disciplinary partnership working across lipidology, genetics,cardiology and primary care.</p><p>- Development of an FH primary care pack and web-based teachingguide to support primary care</p><p>- A nationwide electronic patient pathway, utilising an IT system toensure an equitable and systematic approach to patient care.patients with polygenic hypercholesterolaemia. It is important to distin-guish FH from polygenic hypercholesterolaemia as FH carries signicantlyhigher risk of coronary heart disease. We reviewed total cholesterol levelsof 790 healthy individuals who attended voluntary health Check up. Allwere over the age of 40 yrs working either in our health board or in alocal steel plant. 8 healthy individuals with no signicant past medicalhistory and no evidence of metabolic syndrome were found to have</p><p>Abstracts / AtheroscleCardiff, UK; 2Royal Gwent Hospital, Newport, UK; 3Cardiff University,2010, there were three lipid clinic sessions a month, seeing on average 12new patients per month. New patient waiting lists were in excessive of6months, managed only by initiative clinics, twice a month.</p><p>Patients who were being seen in Lipid clinic, who met the criteria for FHgenotyping, were seen by the FH specialist nurse and offered counsellingand the option of consenting for the FH genetic test, either during theirlipid clinic appointments or at specic community based nurse-led gen-otyping clinics. Due to the excessive lipid clinic waiting list times, no FHawareness sessions were carried out in primary care, to promote referralfor FH assessment/genetic testing.Since March 2012, ABHB has initiated nurse-led FH assessment clinics thatrunalongside consultant led clinics. By identifyingpatients for FHassessmentat the time of referral, waiting times for FH assessment/genotyping havereduced from 6 months to 6-8weeks. This has affected general lipid referraltimes with waiting list held at 6 months, without the use of initiative clinics.Reduction in waiting times have allowed for the promotion of FH withinprimary care. This improves access to FH genetic testing and the cascadetesting of family members, with known pathogenic variants.</p><p>TWO CASES OF TANGIER DISEASE MUTATION: CLINICAL RELEVANCEFOR VASCULAR RISK</p><p>A. Jain 1, K. Al-Musalhi 1, KoksweeGan 2, J.W. Persaud 1, D.P.Mikhalidis 1, D.R.Nair 1.</p><p>1Department of Clinical Biochemistry, Royal Free Hampstead NHS Trust,London NW3 2QG, UK; 2Cheltenham General Hospital, Sandford Road,Gloucestershire, GL53 7AN, UK</p><p>Tangier disease (TD) is an autosomal codominant disorder that causes acomplete absence or extreme deciency of high density lipoprotein (HDL).It is caused by mutations in the adenosine triphosphate binding cassettetransporter 1 (ABC-1) which plays a role in the cholesterol efux pathway.Two siblings initially presented with undetectable HDL cholesterol (HDL-C) levels. We received the samples through our Supraregional Assay Ser-vice (SAS) centre for Cardiac Biomarkers. The index case was under thecare of dermatologists for acne and a lipid prole was ordered as oralretinoid therapywas considered. Repeat analysis conrmed a lowHDL-C of0.1 mmol/L in both siblings together with low total cholesterol but normaltriglycerides. Apolipoprotein A1 (APO A1) was 1mmol/L. Studies showed a 54% risk of developing peripheral neuropathyand a 20% risk of developing cardiovascular disease (CVD) in patient withTD compared with </p></li><li><p>Background: People with familial hypercholesterolaemia (FH) face lifelongmedication and lifestyle choices. An accurate understanding of thecomparative benets from different preventive strategies can help themmake rational decisions based on individual circumstances.</p><p>Methods: We developed a deterministic, risk-factor and cause-of-death-based, longitudinal mortality model to predict mean age of death based onindividual risk factors. The performance of the model has been assessedusing data from epidemiological studies that followed patients over mul-tiple decades. We used the model to estimate, for eight individuals withdifferent proles, the likely increase in lifespan associatedwith a reductionin total cholesterol to high-density lipoprotein ratio (TC:HDL) of 1.0. Wethen determined what change in smoking rate, systolic blood pressure(SBP) and body-mass index (BMI) would be equivalent to this change inTC:HDL ratio for each individual.Results: Having a TC:HDL ratio typical of FH (7.3) brings forward the meanage of death, compared with 2008 UK population means, by 1.7 to 2.3years, depending on age and gender. The mean increase in age of deathassociated with a 1.0 reduction in TC:HDL from baseline ranged from 0.4years for a 65 year-old woman with FH to 0.9 years for a 35 year-old manwith a population mean TC:HDL ratio of 4.2. This absolute difference insurvival was equivalent to a change in smoking rates of 15 cigarettes a</p><p>cholestatic jaundice, lecithin-cholesterol acyltransferase (LCAT) deciency,</p><p>patients with elevated bilirubin, renal failure, type 2 diabetes mellitus,hypothyroidism and on TPN.</p><p>Method: Agarose gel electrophoresis was performed with enzymatic stainingfor cholesterol to quantitate total and free cholesterol in plasma lipoproteins.Non-HDL FC/TC ratios in 14 patients with elevated bilirubin, 14 with renalfailure,14with type2diabetesmellitus,15withhypothyroidismand3patientson TPN were measured. Ratios were compared to those from a previouslyderived reference range.Gelswereexamined for thepresenceof adistinct LP-Xband,whichwasquantiedbycalculationassumingaFC/TC ratio in LP-Xof1.0.Results:Median calculated ratios in diabetic patients (0.29; P0.0049), hypo-thyroid patients (0.31;P0.0018), renal failure patients (0.41;P</p></li></ul>