TY - JOUR
T1 - Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia
AU - Fouchier, Sigrid W.
AU - Rodenburg, Jessica
AU - Defesche, Joep C.
AU - Kastelein, John J. P.
PY - 2005
Y1 - 2005
N2 - Inherited, or autosomal dominant, hypercholesterolaemia, with an average global prevalence of one in 500 individuals, is one of the most frequent inherited metabolic disorders. The disorder is associated with a high risk for premature cardiovascular disease (CVD) and death as a consequence of accelerated atherosclerosis. Although the molecular genetic basis is largely elucidated and effective medical treatment, in the form of inhibitors of intracellular cholesterol synthesis, is available, the disorder is severely underdiagnosed and undertreated. On the other hand, with the well-understood aetiology, the accurate diagnosis, the availability of sensitive predictive makers and efficacious therapy, this disorder can serve as a model for disease management: from early presymptomatic diagnosis, accurate prognosis, optimal treatment and large-scale screening to population-based prevention of CVD
AB - Inherited, or autosomal dominant, hypercholesterolaemia, with an average global prevalence of one in 500 individuals, is one of the most frequent inherited metabolic disorders. The disorder is associated with a high risk for premature cardiovascular disease (CVD) and death as a consequence of accelerated atherosclerosis. Although the molecular genetic basis is largely elucidated and effective medical treatment, in the form of inhibitors of intracellular cholesterol synthesis, is available, the disorder is severely underdiagnosed and undertreated. On the other hand, with the well-understood aetiology, the accurate diagnosis, the availability of sensitive predictive makers and efficacious therapy, this disorder can serve as a model for disease management: from early presymptomatic diagnosis, accurate prognosis, optimal treatment and large-scale screening to population-based prevention of CVD
U2 - https://doi.org/10.1038/sj.ejhg.5201496
DO - https://doi.org/10.1038/sj.ejhg.5201496
M3 - Article
C2 - 16189547
SN - 1018-4813
VL - 13
SP - 1247
EP - 1253
JO - European journal of human genetics
JF - European journal of human genetics
IS - 12
ER -