Systematic discovery of Familial Hypercholesterolaemia Study
Systematic Detection of Familial Hypercholesterolaemia
Dr Keith Howe, Prof Andrew Kirk, Rita Barber – Rural Clinical School and UWA Notre Dame
There are individuals in the community (1:500) who have an inherited disorder leading to raised lipid (blood fat levels). These individuals have a high risk of heart attack and stroke. The problem is that many (90%) are not aware of the disorder or only after they have suffered from an adverse event.
The study aimed to identify the best of two potential methods for screening the population for this disorder so that they may be commenced early on preventive treatment. Data was collected from two sources; namely records of lipid samples held in pathology labs and records held in GP clinics.
The study confirmed the rate of about 1:500 cases of FH in the community. The yield of positive FH cases was the greatest using path lab samples, and this was also the most cost effective. Whilst screening GP results had a lower yield of FH cases, it had the advantage of highlighting more of those at a lesser risk of cardiovascular disease from raised lipid levels unrelated to FH.
The identification of FH patients means that cascade screening can take place along family lines, thereby exposing further patients at risk, and identifying them early so that preventive treatment can be commenced.
Future: This research supports an integrated Primary Care FH screening model using cholesterol results to screen, and GPs to recruit, manage and refer FH patients to specialist centres. The project established strong links between GPs and lipid specialists including establishing a telehealth clinic for FH patients and patients at high risk of coronary heart disease.
Phase III of the study is actively following the recommendations with training and collaboration taking place with local GP’s.
A further spin off from this study has facilitated DNA testing locally, whereas previously patients had to travel to Perth for this service.