Risk factors

FH Summit: A view from clinicians in the FH implementation team

Tuesday, 23 Nov 2021

The FH Australasia Network brought together a host of international experts in the field of familial hypercholesterolaemia (FH) for a virtual summit in October of 2021. The purpose of the FH Summit was to initiate processes for the implementation of FH clinical recommendations that the network had recently published;1 the recommendations were developed with the input of contributors from diverse disciplines, and were endorsed by major national and international organisations.

One session provided the opportunity to consider the perspectives of the GP and cardiologist regarding their roles in the FH implementation team, followed by workshops for developing implementation strategies.

Professor Watts (Winthrop Professor of Cardiometabolic Medicine in the University of Western Australia and current chair of the Familial Hypercholesterolaemia Australasian Network) defined implementation science as “the modality for employing and utilising evidence to actually change practice in a healthcare setting,” a practice which he said “is a team sport.”

General practice perspective

Associate Professor Jan Radford, a GP and academic at the University of Tasmania, reflected on implementation challenges in general practice for the detection and management of those with FH. She also presented a case study as a basis for exploring care pathways in FH.

In the context of treating patients in Tasmania with FH, A/Prof. Radford explained, “We have a very rural and dispersed population, with the highest incidence of ischaemic heart disease in the north or northwest”. She noted key barriers to treatment:

  • Patients aware of their high cholesterol levels, but lacking a formal diagnosis of FH
  • FH often being partially treated on maximum available medications (statins +/- ezetimibe)
  • The lack of a clear and workable care pathway involving non-GP specialists in lipid management
    • Lack of cardiologists with specific lipid management skills in the region
    • There is a nascent dedicated lipid clinic in Hobart – but how it can be accessed is not yet clear

As A/Prof. Radford explained some opportunities too, including the increased adoption of telehealth technologies in other specialties, such a rheumatology, which could be an option for people living with FH. Another consideration was financial support for staff to screen patient files and follow up with cascade testing. “There is so much to do in a busy consultation…taking a family history and teasing it apart may not be prioritised,” said A/Prof. Radford.

A/Prof. Radford presented a case study of a 54-year-old gentleman who presented with atypical chest pain on a background of stable angina (diagnosed when he was 46 years old). She referred him to a cardiologist with a suspicion of FH based on clinical examination and test results; however, the cardiologist considered that further investigation was not warranted due to his young family and borderline cholesterol levels, a response which A/Prof. Radford noted highlighted the barriers to management of potential cases of FH.

Cardiology perspective

Professor Stephen Nicholls, a world-renowned cardiologist and leader of the Victorian Heart Hospital due to open at Monash University in 2022, began by recognising the impact of FH on cardiovascular disease risk. “We are seeing patients presenting earlier, with more diffuse atherosclerotic disease and potentially catastrophic complications,” he said.

From the health service perspective, Prof. Nicholls acknowledged a growing need to expand shared care models to include primary care. This is due to overloading of cardiology services with already long wait lists, a situation made worse by the increased ability to diagnose of FH and identify high-risk patients. “We are going to need to look at developing innovative approaches to FH management, so we can treat the right patient in the right place,” said Prof. Nicholls.

When it comes to identifying patients with FH, Prof. Nicholls noted that “from a cardiologist’s point of view, FH patients are everywhere”. He recommended cardiologists be on the lookout for potential cases of FH in their surgical wards, coronary care units, cardiac catheterisation labs and in clinics. To this end, cardiac genetic services are expanding with an increased interest in training from fellows. “There are plans to see how large cardiology units around the country expand genetics into their day-to-day practice,” explained Prof. Nicholls.

Prof. Nicholls outlined what he considered to be important aspects of education for cardiologists around FH:

  • Diagnosis of FH – including understanding of the full features of the lipid profile and clinical test results and their implications
  • Importance of genetic testing and cascade screening
  • The need to tailor LDL-C levels according to the patient’s cardiovascular risk
  • How to prescribe established therapies
  • The pivotal role of cardiologists and their team in prevention of CVD, not just managing complications once disease has manifested

He also discussed the national FH registry, recommending cardiologists get acquainted with it. “It is an exemplar model that extends data collection through to health service delivery,” he said.

Prof. Nicholls outlined key research themes for the future: the use of novel technologies to assess medical records of patients and help diagnose cases of FH, determination of individual management goals and optimisation of therapies. Wearables and devices that complement medical informatics should be explored, along with integration of machine learning and artificial intelligence, he said. “FH is not only a significant challenge for cardiology services but an important opportunity to develop new models of care. Ongoing education is key to making more cardiologists effective members of the multidisciplinary teams for FH management,” he said.


  1. Watts G. et al. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl. 2011; 12(2): 221–263.


This article was written by the limbic in collaboration with the FH Australia Network.

Thank you to Amgen Australia Pty Ltd  for providing the non-restrictive educational sponsorship that made it possible.

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