Gaps in the knowledge of familial hypercholesterolaemia (FH) among physicians in the Asia Pacific region suggest the need for country-specific guidelines, knowledge exchange and capacity building programs.

The ‘10 Countries Study’ of FH surveyed over 1,000 primary care physicians in Australia, Japan, Malaysia, South Korea, Philippines, Hong Kong, China, Vietnam and Taiwan, and using the UK as the international benchmark.

The study found only about one third of physicians felt they were sufficiently versed in knowledge of FH and less than half were aware of relevant clinical guidelines.

It found doctors were typically treating FH patients appropriately with statins but their intrinsic knowledge of the condition was variable.

Lead author Professor Gerald Watts, a preventive cardiologist from the University of Western Australia, said only about two thirds of respondents gave a correct description of the disorder and identified the typical lipid profile.

“Hence the ability to make a precise diagnosis in patients with familial hypercholesterolemia would be significantly impaired.”

He said only about 1 in 10 physicians realised the extent of the risk associated with FH.

“The risk of coronary disease is much higher – greater than 20 times – for the same level of cholesterol in FH versus non-FH patients.”

The frequency of FH was also not correctly identified in about one quarter of responses and only about half understood the inheritability of FH.

“Most doctors got the treatment right but many were not confident in diagnosing or understanding the individual subcomponents that constitute the condition,” Professor Watt told the limbic.

“It’s not a surprise really as community studies in Australia also find about half of patients who turn out to have FH, haven’t been given that diagnosis. A lot have been started on treatment already but not diagnosed.”

He said the lack of diagnosis had clear implications for cascade screening to identify affected relatives.

“International guidelines suggest most people should be diagnosed by age 10 years. This is a lifelong condition best managed by early diagnosis and early treatment.”

“However in this study, preference in the Asia Pacific countries was for screening in teenage years. That reflects a less aggressive approach but also that you are screening at a difficult period in young people’s lives when it is more difficult to reach them than at an earlier age.”

Investment in FH would pay off

Professor Watts said there were major disparities between countries such as treatment gaps in Vietnam and the Philippines, and screening gaps in Japan.

“We’ve identified the gaps and disparities in the region and the need to address that through international efforts at education, and through putting pressure on governments to get reimbursement for people with FH.”

He said as well as the benefits to patients and families, there were significant health system cost savings by preventing acute coronary syndrome and associated interventions.

He added one of the treatment challenges was the popularity of complementary and alternative medicines in some countries.

“FH requires drug therapy to correct a genetic abnormality that can be serious – nutraceuticals might enhance the effect of statins but I don’t think they are particularly useful on their own.”

“In a nutshell, we need a strategic education and awareness program in the community and across the professions – providing knowledge that would lead to improved clinical services.”