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Clinical Signs of FH

A diagnosis is based on a combination of high cholesterol levels, clinical signs and a family history of heart disease or high cholesterol. DNA testing can be helpful to confirm diagnosis.

Signs of FH

 

Knuckles effected by Tendon Xanthomata
 Tendon Xanthomata

Pronounced Zan-tho-mata. These are cholesterol deposits which show up as fatty lumps on the Achilles tendons, knuckles or knees.

 

Eyes effected by Xanthelasmas
Xanthelasmas

Pronounced Zan-thel-as-mass. These are cholesterol deposits which show up as small lumps near the inner corner of the eye. These are usually yellow in colour.

Eye effected by Corneal Arcus
Corneal Arcus

This is a white ring around the iris. It can occur naturally as people get older (over the age of 60) and it doesn't always mean that somebody has FH. If present, this is a reason to have your cholesterol measured.

 

However, many people with FH do not have these tell-tale physical signs as they may not appear until middle age, if at all. For this reason, people are often unaware that they have FH until they (or a family member) suffer from a heart attack at a young age.

For information on diagnostic testing please see our Diagnostic Testing for Familial Hypercholesterolaemia leaflet.