Call for screening to detect

call-for-screenTENS of thousands of patients who have inherited a dangerously high risk of a heart attack in early life are going undetected, warn cardiologists, who are calling for a new integrated screening system to pick up their condition before it becomes life-threatening. 

The condition, called familial hypercholesterolaemia, greatly accelerates the process by which arteries harden and fur up with fatty deposits, so that heart attacks begin to strike when patients are in their 40s or even 30s, instead of 50s and 60s. 

Despite affecting an estimated one in 500 people – equivalent to about 50,000 people in Australia – the $1000 DNA test used to diagnose the gene mutation responsible is not funded by Medicare, and is available at only two hospitals in the country. 

Now heart disease experts are seeking support for a coordinated national approach to detecting and treating the problem, warning that most patients are not being diagnosed until after a heart attack or other coronary event strikes. 

Gerald Watts, a consultant physician at the Royal Perth Hospital, said although familial hypercholesterolaemia affected as many patients as HIV infection or type-1 diabetes, it attracted little research or funding because it was a “silent” condition. “If you have type-1 diabetes, you feel sick; if you have HIV, you feel sick; but if you have FH, you feel fine – until you have your first heart attack at the age of 45,” Professor Watts said. 

The recommended target for total blood Glossary Link cholesterol levels is 5.5 millimoles per litre (mmol/L), but people with FH can have levels of 10 or 15mmol/L, or even 24mmol/L if two copies of the mutation have been inherited. 

Professor Watts said the plans for improved detection focused on a coordinated national system for “cascade screening”, which took advantage of the fact that cases were more likely to be identified by targeting the family members of patients with FH. 

“If you have 15 family members, some of whom are in Melbourne and others are in upstate NSW, your own GP won’t be able to do that (screening) effectively,” he said. 

“In order to do that, there needs to be a central process, and that’s what needs to be funded.” 

The FH screening and detection model is to be discussed at an International Symposium on Glossary Link Atherosclerosis to be held in Sydney from this weekend. 

Robert Grenfell, national clinical issues director for the National Heart Foundation, said he had seen patients who had suffered a heart attack at the age of 32. The new detection and treatment plan had the Heart Foundation’s full support. 

Jing Pang, 24, who is studying for a PhD in medicine and pharmacology, was diagnosed with FH two years ago, and said she had passed on the news to her father’s GP in Sydney. 

“It was a bit of a shock – you don’t expect to have a condition like this, but it’s good to have found out when I’m young because it means I can go through life being careful of it.” she said.

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