Category: News

Homozygous familial hypercholesterolaemia (HoFH) is the most severe form of FH and usually presents in childhood. It is rare, affecting about 1:300,000 people and occurs when a person inherits 2 faulty copies of the LDL receptor gene (or sometimes other genes which cause FH), one from each parent. As a result, the LDL cholesterol (LDL-C)…

Lipoprotein(a) [Lp(a)] – pronounced “lipo-protein little a”, or “LP little a” is the most common inherited risk factor for heart disease. High Lp(a) levels occur in 20% of people, yet only 1-2% have ever been tested. It is structurally very similar to low-density lipoprotein (LDL) cholesterol, which makes Lp(a) uniquely ‘sticky’. This ‘stickiness’ encourages the…

Familial Hypercholesterolemia (FH) is a genetic condition that causes high cholesterol levels. In about 90% of cases, this happens because of changes in a gene called LDLR, which affects how the body clears “bad” cholesterol (LDL) from the blood. Normally, the LDLR protein acts like a tiny catcher, grabbing LDL and pulling it into liver cells,…

As an interventional cardiologist, I often meet patients in the cath lab when prevention is no longer an option—when they are having a heart attack, and a stent or bypass is the only way forward. But what if we could intervene earlier and prevent the need for invasive procedures altogether? Familial hypercholesterolaemia (FH) is a serious genetic condition that leads…

Genetic screening for Familial Hypercholesterolaemia (FH) and other inherited conditions is a cost-effective strategy that has the potential to prevent serious disease and reduce long-term healthcare costs. Despite FH affecting 1 in 250 people, most remain undiagnosed, missing opportunities for early intervention and cost-effective treatment. A health economic approach supports population-wide screening, cascade screening, and newborn screening as proactive strategies…

The power of patient advocacy is essential in improving health care navigation, patient-clinician dialogue, and the wider patient experience.  In the inherited (genetic) high cholesterol space, there is a gap in awareness and understanding of FH with the general public, most levels of health care, and with policymakers resulting in 90% of affected individuals remaining…

GPs have a critical role in assessing and helping their patients to reduce cardiovascular risk, including high cholesterol and FH, especially those who don’t yet have heart disease. It’s exciting that Medicare now rebates pathology companies for GP-requested “cascade” DNA testing for immediate relatives of people diagnosed with FH. Relatives of people diagnosed with FH…

Familial hypercholesterolaemia (FH) can be relatively straightforward to manage with early detection and treatment. However, gaps in diagnosis, treatment, and the application of evidence-based care often prevent optimal outcomes. Implementation science addresses these gaps by identifying barriers and creating strategies to integrate evidence-based care into routine health services. For FH, this means ensuring timely diagnosis…

Having worked in health care for twenty-seven years, both overseas and in Australia, I have found that successful patient engagement occurs with active patient involvement. Familial hypercholesterolaemia, an inherited genetic disorder which can cause high cholesterol and lead to premature cardiovascular disease is not a diagnosis that occurs overnight. It’s a process involving screening, diagnosis,…

Familial hypercholesterolaemia (FH) is a serious inherited condition that causes high cholesterol and early heart disease. It affects about 1 in 250 Australians. A single DNA test can diagnose FH; however, it is estimated that over 90% of Australians with the condition remain genetically undiagnosed. This is because genetic testing is typically only offered to…