Familial Hypercholesterolemia
We do not offer genetic appointments to families with familial hypercholesterolaemia as we do not recommend genetic testing for this condition. This is because management is unchanged whether or not there is a mutation, and in many cases a mutation cannot be found. Family screening relies on measurement of lipid levels.
We suggest making a referral to the local general medicine or paediatric clinic. In some cases there may be a local lipid clinic at the hospital.
Information for adults
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About 1 in 500 people has FH.
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If untreated, there is a high incidence of premature cardiovascular disease e.g., 50% of untreated men will have had a fatal or non-fatal coronary event by age 50 years; 30% of untreated women will have had an event by age 60 years.
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Medical treatment is recommended from teenage years as this significantly reduces the risk of vascular disease.
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FH may be suspected in adults with an LDL level >4.9 mmol/L (see attached information).
Information for relatives
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Children, siblings and parents of a person with FH have a 50% (1 in 2) chance of also being affected.
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Children with LDL ≥4mmol/L or total cholesterol ≥6mmol/L should be referred to a paediatrician to discuss statin therapy.
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If the child’s cholesterol levels are below this range, we suggest that they are re-checked every few years until adulthood, to ensure they remain normal.