Familial Hypercholesterolaemia Sanofi Booklet
Inherited Cholesterol Guide

Download our easy to read pictorial guide to Familial Hypercholesterolemia. Find out more about inherited high cholesterol.  

Inherited cholesterol facts
  • People with familial hypercholesterolemia (FH) are at greater rish of heart disease
  • At least 1 in 500 people are believed to have FH but may be more as in other European countries
  • Of the 120,000 people in the UK with FH only 15% – less than 1 in 5, know they have the condition
  • At least 28,000 children in the UK have FH but only 600 of these are known

Making a definite or possible diagnosis of Familial Hypercholesterolaemia (FH) 

In the UK most doctors diagnose Familial Hypercholesterolaemia clinically using the Simon Broome Criteria.   

To make a definite diagnosis of Familial Hypercholesterolaemia you need:

  • A total cholesterol above 6.7mmol/L or LDL cholesterol above 4mmol/L in a child (link)
  • A total cholesterol above 7.5mmol/L or LDL cholesterol above 4.9mmol/L in an adult 

Plus

  • Tendon xanthomas in the patient or a close relative (parent, brother, sister, child, grandparent, aunt, uncle)​

Or

  • DNA based evidence of an altered gene

To make a possible diagnosis of Familial Hypercholesterolaemia

  • A total cholesterol above 6.7mmol/L or LDL cholesterol above 4mmol/L in a child (link)
  • A total cholesterol above 7.5mmol/L or LDL cholesterol above 4.9mmol/L in an adult

Plus

  • Family history of heart attack below the age of 50 in  a second degree relative (grandparent, aunt, uncle) or below the age of 60 in a first degree relative (brother, sister, aunt, child)

Or 

Family history of raised cholesterol

  • Above 7.5mmol/L in an adult
  • Above 6.7mmol/L in a child under 16 (brother or sister)    

Visual signs of FH

Some people with Familial Hypercholesterolaemia have physical signs on the outside of their body. These include swollen tendons on the heels and knuckles of the hands (tendon xanthoma) or yellowish patches around the eyes (xanthelasma).  
Sometimes a white deposit of cholesterol in the shape of an arc (corneal arcus) may also be seen at the edge of the coloured part of the eye.  Tendon xanthoma only occur in people with Familial Hypercholesterolaemia.