Getting to the Heart of the Matter for Familial Hypercholesterolemia

Untreated, people with familial hypercholesterolemia (FH) have up to 20 times higher risk of premature heart disease compared to those without. But low awareness and understanding of the severity of FH lead to undiagnosed and underdiagnosed FH patients. Even among diagnosed FH patients, high default rates for appointments and low adherence to prescribed medication are observed.

“Over the years, we see young patients who have coronary disease with high cholesterol levels. We also see young families suddenly losing their main breadwinner and left to fend for themselves after a bad cardiac episode. These—are all very much preventable,” says Associate Professor Tavintharan Subramaniam, Senior Consultant, Department of Medicine, Khoo Teck Puat Hospital (KTPH).

“When I learnt from Tavin how FH is overlooked despite being so readily detected and managed with medication and lifestyle adjustments, I am convinced that this is a worthy cause. So when I saw the clinical implementation pilot PRECISE offers, I was very interested to put up the economic case for it. I got in touch with Tavin—and here we are,” smiles Associate Professor Wee Hwee Lin, Saw Swee Hock School of Public Health, National University of Singapore.

Not for the fainthearted

“Well, FH has always been an area of interest for me. I have been leading FHCARE—a clinical research programme—since its initiation in KTPH in 2015. It is now actively supported by endocrinologists, cardiologists and primary care physicians in Singapore. Over the years, growing interest among clinicians and support from stakeholders have validated the relevance of such a programme. So, although I was hesitant about the amount of work the pilot entails, I felt assured by the support of passionate and committed collaborators like Hwee Lin,” says A/Prof Tavintharan.

“It also helps that we are building on the knowledge foundation of the FHCARE programme that has been around for eight years now. For example, we’ve learnt that FH is a condition where diet and lifestyle changes alone are not enough to solve the problem. Instead, if we start the medication and treatment early, the probability of reducing coronary events and improving survival in the long term can go as high as 76%.”

A/Prof Tavintharan continues, “Now—if we start the treatment even earlier or administer a more intensive treatment, can we bend the curve such that the risk profile for that person is similar to the general population? That’s what we want to find out in this pilot.”

A/Prof Wee chimes in, “Yes—from an economic perspective, this translates into more productive years for the economy as well as less economic burden to the society.”

Keeping a finger on the pulse of scalability

A/Prof Wee says, “There’s really no question about the relevance of a FH programme from a clinical standpoint. Tavin has done a great job with generating the clinical evidence. Question is, how do we integrate this into the health services in such a way that not only minimises barriers for both patients and clinicians but also makes economic sense for the nation? That is something we want to answer with this pilot—how to scale up and implement the programme nationwide in a cost-efficient manner.”

“From day one, we embarked on this pilot with the end goal in mind, which is to put up a convincing economic case for FH. Although FH may be a health issue, but it has economic implications on manpower and our economy.” A/Prof Wee adds.

It is both hard work and heart work

Almost a year into the pilot now, the pair has registered early wins—particularly on the clinical front. A/Prof Tavintharan says, “Before this pilot, we processed the genetic samples primarily at our lab in KTPH. Comparatively, we now have the support of a local accredited clinical lab. That means validated consistency and faster turnaround for the patients. For the clinicians, we can also better focus on the patient and encourage cascade screening for their first degree relatives.”   

“As a result, we are seeing a good recruitment rate. Add to that, the 150-day window for first degree family members to get free testing has also been very helpful in elevating receptivity towards cascade screening for first degree relatives of probands. The hope is that as the population becomes more FH aware, more people will take proactive steps to get diagnosed and treated early,” reflects A/Prof Tavintharan.

A/Prof Wee says, “Of course, the pilot also presents its share of challenges. For instance, on the back of strong recruitment, we need more manpower. We also need data sharing agreements to be mapped in tandem. And these things could really take a while. Nonetheless, we are pushing forth on all fronts, adapting as we move along—like collecting genetic samples through buccal swabs, easy but just as accurate; or leveraging technology to identify persons with probable FH from electronic medical records.”

“At the end of the day, we want to be in a position to not just convince the stakeholders that this is a worthwhile cause, but also help them make informed decisions on the implementation—for the most optimum outcome,” A/Prof Wee concludes.

A/Prof Tavintharan says, “On the bright side, I think most stakeholders do see what we see—but it is up to us to prove to them that the numbers also add up!”

Read more about the research behind FH here.

This project is supported by the National Research Foundation, Singapore, through the Singapore Ministry of Health’s National Medical Research Council and the Precision Health Research, Singapore (PRECISE), under PRECISE’s Clinical Implementation Pilot grant scheme.