[A family-based strategy for diagnosing familial hypercholesterolemia].
BACKGROUND
Patients with familial hypercholesterolaemia have increased risk of developing coronary heart disease. The most cost-effective way of diagnosing patients with familial hypercholesterolaemia is to perform genetic testing of close relatives of already diagnosed patients.


METHODS
Probands with familial hypercholesterolaemia in whom the underlying mutation in the low-density lipoprotein receptor gene has been identified were informed that close relatives should also be tested.


RESULTS
Blood samples were taken for molecular genetic testing from 851 first-degree relatives of patients with familial hypercholesterolaemia; 47.8 % tested positively and 52.2 % negatively. Among those with positive tests, only 41.5 % were on lipid-lowering drugs and only 6.1 % had a value for total serum cholesterol < 5 mmol/l. Six months after testing, 81.9 % were on lipid-lowering drugs, at which time a mean reduction in total serum cholesterol of 21.2 % (p < 0.0001) was observed in patients aged 18 and above who were not on treatment at the time of testing.


CONCLUSIONS
Molecular genetic testing for familial hypercholesterolaemia in a family-based strategy is a cost-effective way of diagnosing patients with this condition that leads to implementation of effective preventive measures.
Leren
Trond P
TP
Avdeling for medisinsk genetikk, Medisinsk genetisk laboratorium, Rikshopitalet, Oslo. trond.leren@rikshospitalet.no
Manshaus
Turid
T
Ose
Leiv
L
D020022:Genetic Predisposition to Disease; D005821:Genetic Techniques; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D025202:Molecular Diagnostic Techniques; D011973:Receptors, LDL / Q000235:genetics
D011973:Receptors, LDL