Progress report on familial hypercholesterolaemia in Malta 2018 : the current situation and what needs to be done to improve it

Abstract

Introduction: FH is an autosomal dominant condition causing premature cardiovascular disease. It is underdiagnosed and undertreated worldwide-yet cost-effective treatment is available which should be started early to prevent disease progression. Expected Maltese prevalence is up to 1,700 individuals. National Premature Years of Life Lost under 65 years (PYLL-65) from cardiovascular disease is high, and FH a likely contributor. Moreover, Schedule V database has only 7 children listed as ‘genetic dyslipidaemia’ (expected number c.300). This represents a public health challenge to cardiologists, physicians, general practitioners and paediatricians. Methods: A Register was established in 2017 as an observational study based on opportunistic testing, with Dutch Lipid Clinic Network phenotypic criteria for inclusion of index cases. Monitoring of progress and quality criteria is ongoing. Cascade testing uses lower LDL cut off points for family member identification. Results: Less than 10% of potentially affected individuals have been identified; 96% of these are on statins, with 60% meeting LDL goals; most ‘Definite cases’ are not achieving target. One patient is on PCSK9 inhibition. Cascade testing has identified five cases to date. Conclusion: Under 10% of affected patients have been identified on the register, with none under 18 years. Measures to raise awareness are ongoing, including presentations to various audiences. Outcomes could be improved through the formulary inclusion of ezetimibe, and PCSK9 inhibitors. Genetic testing would improve identification, facilitating the more accurate identification of children and their early management. Disclosures: No direct funding was provided for this study. Sanofi has funded fees for consulting and lectures, and participation in seminars related to the area.12