Heart Foundation in Familial Hypercholesterolaemia warning


women's heart health: woman makes heart shape with hands backlit by sunset

The National Heart Foundation is highlighting that young men and women who have died unexpectedly from a heart attack, many in their 20s or 30s and led healthy lives, may have had Familial Hypercholesterolaemia.

“We are pleased with the progress we are making in researching this condition and it has become clear to my colleagues and me that if Mum or Dad have high cholesterol and carry the gene, their children may well be affected,” says says Professor Gerald Watts at the University of Western Australia and Chair of the FH Australasia Network.

“These children need to be tested between five and 10 years of age.

“FH is one of the most common, potentially fatal inherited conditions that causes heart disease.  High levels of ‘bad’ cholesterol can run in families and the liver doesn’t remove enough cholesterol from your blood.

“This can cause coronary artery disease, often from an early age,” he says.

“In a family I saw recently, Dad, who has had a heart attack, is 45 has FH and is gene positive.  He has three sons who have FH and one of the sons has twins who will need to be tested by the time they are about eight years of age.  The dad’s sister, aged 36, also has FH and two of her children are affected.”

Chair of the Cardiovascular Health Advisory Committee at the National Heart Foundation, Professor Leonard Kritharides says that while FH effects one in every 250 Australians, the good news is that it can be treated.

“We know cardiovascular disease is the cause of 31% of all deaths in Australia and the first presentation of heart disease can be a heart attack or sudden death,” he says.

“It is crucial that people with high blood cholesterol, or who have a family member diagnosed with cardiovascular disease, visit their doctor for a heart health check and adopt a healthy lifestyle,” says Prof Kritharides.

GPs request over 90% of cholesterol tests. When FH is detected it is crucial to screen family members, as 50% of the immediate relatives are expected to be positive for the gene, the Heart Foundation says.

“Studies show that 80% of people predicted to have FH are undiagnosed,” says Associate Professor David Sullivan, Royal Prince Alfred Hospital and The University of Sydney.

If someone in your family has had a heart attack at a young age we recommend you see your doctor for a heart health check to measure your risk. If your LDL (bad) cholesterol is high it may be recommended that you have genetic testing.

“If you have this condition the process starts at birth and you can develop coronary artery disease as early as your 20s and 30s. Early diagnosis and treatment is essential,” says A/Prof Sullivan.

Recent studies highlight the importance of testing children who are at risk as early diagnosis and treatment can delay or prevent damage to the arteries of the heart and early heart attacks.

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