Developing a national implementation strategy for enhancing the detection of familial hypercholesterolemia: An Australian experience

BACKGROUND: Familial hypercholesterolemia (FH) is a common and treatable inherited condition of cholesterol metabolism that increases cardiovascular health risk. Less than 10% of people with FH have been detected and few receive recommended treatment. 

OBJECTIVE: We report on the development of a national implementation strategy for enhancing the detection of FH in Australia. METHODS: A modified intervention mapping study was conducted, through workshops to identify barriers and facilitators of FH detection, models for detection and their objectives. Practical implementation strategies were selected using a constructivist analysis and summaries of the strategies were disseminated for feedback. A case study showcase was used to monitor strategy implementation.

RESULTS: Potential models for FH detection were identified, including (1) use of pathology lab reports and recall; (2) screening in general practice, pharmacy, and Aboriginal Community Controlled Health Organizations; (3) screening in cardiovascular inpatients, outpatients, and rehabilitation; (4) universal screening; and (5) centralized coordination of primary-tertiary shared care. Implementation strategies were selected for each model to support their operationalization into routine care. A list of general implementation strategies was also produced that could support multiple models for FH detection.

CONCLUSION: We identified multiple FH detection models and strategies that would support implementation across Australia. Centralized coordination of a primary-tertiary shared care model was described as a promising approach for integrating index case detection with family cascade testing. We provide a set of implementation recommendations for policy and practice to enhance the detection of FH in Australia.