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Question answered:11/10/07 Warning! this question is over two years old.
The CKS guideline on cardiovascular risk [1] states:
“Familial combined hyperlipidaemia is a genetic disease in which members of a family have hypercholesterolaemia and hypertriglyceridaemia. The pattern of inheritance is complex. Individuals may have either hypercholesterolaemia, or hyperlipidaemia, or both, or neither — hyperlipidaemia usually does not appear in affected individuals before middle age. All have elevated levels of apolipoprotein B (apoB) and small dense LDL (lipoproteins).
Suspect familial combined hyperlipidaemia in a person with:
- Moderate to severe mixed hyperlipidaemia (typically serum total cholesterol 6.5–8.0 mmol/l and serum triglycerides 2.3–5.0 mmol/l), and
- Family history of hyperlipidaemia or premature CHD not due to familial hypercholesterolaemia”
With regard to testing it states:
“Familial hypercholesterolaemia is diagnosed in clinical practice, not by genetic testing, but by clinical features and standard laboratory tests of plasma cholesterol. This is because genetic tests are mainly used for research. Moreover genetic tests do not cover all cases of FH, as not all genetic causes of FH have been identified yet.
Familial hypercholesterolaemia is classified as
Definite if:
- Total cholesterol concentration is greater than 7.5 mmol/l (either pre-treatment or highest on treatment) in adults over 16 years, or LDL cholesterol is greater than 4.9 mmol/l, and
- Tendon xanthomata in the person or a first- or second-degree relative, and/or DNA-based evidence of an LDL-receptor mutation or familial defective apoB-100
Possible if:
- Total cholesterol concentration is greater than 7.5 mmol/l (either pre-treatment or highest on treatment) in adults over 16 years, or LDL cholesterol is greater than 4.9 mmol/l, and
- Family history of myocardial infarction before age 50 years in second-degree relative or before age 60 years in first-degree relative, or
- Family history of raised total cholesterol is greater than 7.5 mmol/l in a first- or second-degree relative”
Reference
1) http://cks.library.nhs.uk/cardiovascular_risk/view_whole_guidance
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