Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a genetic condition of high cholesterol that runs in families.

People with FH are born with high levels of ‘bad’ cholesterol (also called LDL cholesterol) in their blood. Having FH can raise your chances of developing heart disease earlier in life, but understanding this risk helps you take proactive steps towards your health.

It is a genetic disorder that is inherited from one or both parents, meaning it is passed down from parents to children through their genes.

• Your whānau has a history of early heart attacks or heart disease
• Women in your family have had heart conditions under 60 years of age
• Men in your family have had heart conditions under 55 years of age

• Having very high cholesterol levels, especially high LDL cholesterol (LDL-C), can be a sign of familial hypercholesterolemia (FH). However, this is not always the case.
• If your family has a history of heart disease at a young age, this can increase your probability of having FH.
• If you are under 60 and have heart-related symptoms or have had a stroke, it’s important to ask your doctor about FH.
• Some physical signs can include cholesterol building up as lumps or yellowish patches around your tendons (like the Achilles tendon or knuckles) or around your eyelids
• A ring around the coloured part of your eye (cornea), called arcus, that appears before age 45, can also be a sign of FH.

Even if you don’t notice any symptoms or signs, you could still have FH. If you’re worried about your risk, talk to your healthcare provider so they can check and guide you further.

Doctors may suspect FH when LDL cholesterol (LDL-C) levels are:

• >4.9 mmol/L in adults
• >4.0 mmol/L in children

If you are diagnosed with FH, cholesterol-lowering medications greatly reduce the risk of developing heart disease.