Familial hypercholesterolaemia

What is it?

Familial hypercholesterolaemia (FH) is passed down in families.¹ A change in a gene stops the body from clearing LDL ('bad') cholesterol from the blood, so the level is very high from birth.¹ The extra cholesterol makes narrowing of the arteries more likely at an early age, which raises the risk of heart disease at a young age.^1,2

It affects about 1 in 200 to 1 in 250 people in most countries.² Usually one changed gene from one parent is enough to cause it.^1,2 Rarely, a child gets the gene from both parents: then cholesterol is much higher, and the risk of heart attacks and heart disease is high, even in childhood.¹

The first signs

In the early years there may be no signs; people from families with a strong history of early heart attacks should have blood tests to check their cholesterol.¹

• fatty lumps in the skin over parts of the hands, elbows, knees and ankles;¹
• yellowish patches on the eyelids;^2,1
• a grey ring around the edge of the clear front of the eye;^2,1
• chest pain (angina) at a young age;¹
• cramp in the calves when walking.¹

How doctors find out

Your doctor asks about your own and your family's health and looks for fatty deposits on the skin and in the eyes.¹ Blood tests may show high total cholesterol and high LDL cholesterol.¹ A genetic test can look for the gene change.¹ People from families with a strong history of early heart attacks should have blood tests to check their cholesterol; people with a family history of this condition may want to seek genetic counselling.¹

Current treatment

People with one changed gene may do well with diet changes and statins; other cholesterol-lowering medicines such as ezetimibe or PCSK9 inhibitors can be used, and apheresis may be needed in severe cases.Source: MedlinePlus

Will it get worse?

People with FH are typically at increased risk of early heart attacks; complications may include heart disease and stroke.¹ How it goes depends on how well treatment works.¹ A healthy diet, exercise and taking your medicines correctly lower cholesterol and can delay heart attacks, especially in milder cases.¹ The rare form with two changed genes responds less well to treatment and has a worse outlook.¹

Medicines: what helps, and what to watch for

Statins are the most common medicine: they reduce the amount of cholesterol the body makes and lower the risk of heart attack and stroke.^3,1 If statins are not enough or you cannot take them, other medicines can help: ezetimibe tablets, sometimes with bempedoic acid, or injections such as alirocumab, evolocumab or inclisiran.³

Good to know:

• statins are one tablet a day, and you usually need to take them for life;³
• your doctor may first ask you to change your diet for a few months before starting medicines.¹

Diet and exercise help too

• it may help to talk to a dietitian, who can give you advice about changing your eating habits;¹
• lose weight if you are overweight, and exercise regularly.¹

Blood filtering, for some people

In severe cases, LDL apheresis can be used: blood or plasma is taken out, filtered to remove the extra LDL cholesterol, and put back into the body.¹

Sources

1. MedlinePlus: Familial hypercholesterolemia (Medical Encyclopedia)
2. MedlinePlus Genetics: Familial hypercholesterolemia
3. NHS: High cholesterol – Medicines for high cholesterol