Familial hypercholesterolaemia

Suspect

·         TC > 7.5 [esp. if personal or Fhx. premature CVD]

·         Exclude secondary causes

·         DM, Alcohol, Hypothyroidism, nephrotic syndrome, Steroid, Obesity, COC, B Blocker

·         Use Simon Broome diagnostic criteria

·         Refer possible or definite cases

Simon Broome diagnostic criteria

·         Definite

·         [Adult [TC > 7.5 or LDL > 4.9]] – [ Children [TC > 6.7 or LDL > 4]] and [tendon xanthomas] or [evidence of these in 1st or 2nd degree relative]

·         Possible

·         [Adult [TC > 7.5 or LDL > 4.9]] – [ Children [TC > 6.7 or LDL > 4]] and [Fhx MI < 50 in 2nd  degree relative or < 60 in 1st degree relative] or [Fhx of high TC > 7.5 in 1st or 2nd degree relative or > 6.7 in child, brother or sister < 16]

Degrees

·         1st – Relatives share half of their genes with the person – [parents, brother, sister,  or child]

·         2nd – Relatives shares about one quarter of their genes with the person – [uncle, aunt, nephew, niece, grandparent, grandchild or half-sibling]

·         3rd – Relatives share about one eighth of their genes with the person – [first cousin, great-grandparent or great-grandchild]