Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia

Abstract

Undiagnosed familial hypercholesterolaemia carries a high risk of cardiovascular disease, which is easily preventable with pharmacotherapy, if individuals are appropriately diagnosed, and affected family members identified. The use of DNA testing is cost-effective and allows for efficient cascade testing. This has implications for local services and highlights unmet educational and clinical requirements in clinical lipidology.

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

“…> 7 mmol/L) [30]. When feasible, all patients with suspected FH should be referred to a specialist with expertise in FH for confirmation of the diagnosis [26,28,31]. All patients with homozygous FH (untreated LDL-cholesterol > 13 mmol/L; treated LDL-cholesterol > 7.5 mmol/L) [32] must be referred to the nearest specialist centre for management [8,31,33].…”

“…All individuals with potential FH should be made aware and understand the implications of genetic testing for certain types of insurance cover [8,81]. Systematic cascade screening for FH is best coordinated centrally by a dedicated service that operates closely with primary care and ideally with a patient organization [6,8,31]. Cascade screening should be developed for country-specific and local needs [8].…”

International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?

“…These relate to the fact that healthcare recommendations regarding FH are chiefly based on diverse 106,107) . However, effective implementation of these screening programs and appropriate uptake of recommendations are challenges faced by many countries 108,109) .…”

Translational Research for Improving the Care of Familial Hypercholesterolemia: The “Ten Countries Study” and Beyond

“…This will be completed voluntarily by the main key opinion leaders or experts in FH in the region. The enquiry relates to the following elements: national guidelines and protocols, medical specialties involved in care, role of primary care, screening, diagnostic and assessment protocols, DNA testing facilities, pediatric services, therapeutic strategies, apheresis and liver transplantation; clinical support (nurses, dieticians, counsellors, information technology, and registry), biochemistry laboratory services, cardiology services, funding (public, private, health insurance), drug re-imbursement, education and training programs, research programs, links with and support from government and non-government organizations, and existence of a family support group 9, 43,45) . be employed to design effective teaching and training modules for PCPs in the care of FH.…”

“…Services need improvement and standardization at several levels 18,43) . This includes pediatric services, cascade screening, and multidisciplinary care that involves laboratory medicine, cardiology, and transfusion medicine.…”