High cholesterol: Signs of an inherited disease hiking your risk of a heart attack

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Symptoms of HOFH appear in childhood, the cholesterol charity Heart UK pointed out – you just need to know what to look out for. The liver cells, among other bodily cells, have LDL receptors that “catch” low-density lipoprotein (LDL) cholesterol as it passes by in the blood. However, when a person has inherited HOFH, the LDL receptors are faulty, thereby inhibiting the ability for LDL cholesterol to be picked up, stored, or broken down.

Experts at the Family Heart Foundation pointed out warnings signs of HOFH – xanthelasmas, xanthomas, and corneal arcus.

Delving into each sign, both xanthelasmas and xanthomas are fatty cholesterol deposits found under the skin and around the eyes.

Winchester Hospital elaborated on the skin lesions, which can grow as big as three inches in size.

Xanthelasmas are deposits that appear on the eyelids whereas xanthomas can appear elsewhere on the body.

The most typical places for xanthomas to appear include: the elbows, joints, tendons, knees, hands, feet, and buttocks.

These bumps may feel tender to touch, itchy and painful; they can also appear as different shapes and may be yellow to orange in colouring.

Furthermore, the lesions have “well-defined borders”; if you suspect you have these fatty lumps, do seek medical advice from your doctor.

As for corneal arcus, the Mayo Clinic explained it looks like a grey to white arc “visible above and below the outer part of the cornea”.

The coroner is a “clear, dome-like covering over the front of the eye”, and a white or grey arc may develop around the coloured part of the eye (known as the iris), when cholesterol levels are high.

While the presence of corneal arcus does not impact vision, it could be a telling sign of high cholesterol.

How HOFH is diagnosed

People who have inherited the genetic mutation leading to extremely high cholesterol will usually have a high cholesterol reading.

A cholesterol reading, which can be detected via a blood test, will show a reading of LDL cholesterol above 11mmol/L for children under the age of 18.

As for adults, LDL cholesterol will usually appear above 13mmol/L, Heart UK stated.

The charity also pointed out that very high cholesterol can lead to swollen tendons, on the knuckles and the backs of the ankles.

Furthermore, people who have HOFH might have evidence of aortic valve disease before the age of five.

Treatment for HOFH

“The main treatment for HOFH is LDL aphaeresis, which is a lot like dialysis,” Heart UK noted.

High cholesterol that is not HOFH

High cholesterol caused by lifestyle factors, such as prolonged sedentary behaviour and eating fatty foods, is still a risk factor for a heart attack.

To help minimise this risk the best course of action is to exercise regularly and to eat a healthy, balanced diet.

To help protect the arteries, it is also critical to not smoke, which would otherwise cause damage.

If you suspect you’re having a heart attack at any point, do call for an ambulance on 999.

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