TY - JOUR
T1 - Phenotypic variability in familial hypercholesterolaemia: an update
AU - Jansen, Angelique C. M.
AU - van Wissen, Sanne
AU - Defesche, Joep C.
AU - Kastelein, John J. P.
PY - 2002
Y1 - 2002
N2 - Heterozygous familial hypercholesterolaemia is among the most common inherited dominant disorders, and is characterized by severely elevated LDL-cholesterol levels and premature cardiovascular disease. Although the cause of familial hypercholesterolaemia is monogenic, there is a substantial variation in the onset and severity of atherosclerotic disease symptoms. Additional atherogenic risk factors of environmental, metabolic and genetic origin, in conjunction with the LDL receptor defect, are presumed to influence the clinical phenotype in familial hypercholesterolaemia. The present review discusses recent developments in this field. Curr Opin Lipidol 13:165-171. (C) 2002 Lippincott Williams Wilkins
AB - Heterozygous familial hypercholesterolaemia is among the most common inherited dominant disorders, and is characterized by severely elevated LDL-cholesterol levels and premature cardiovascular disease. Although the cause of familial hypercholesterolaemia is monogenic, there is a substantial variation in the onset and severity of atherosclerotic disease symptoms. Additional atherogenic risk factors of environmental, metabolic and genetic origin, in conjunction with the LDL receptor defect, are presumed to influence the clinical phenotype in familial hypercholesterolaemia. The present review discusses recent developments in this field. Curr Opin Lipidol 13:165-171. (C) 2002 Lippincott Williams Wilkins
U2 - https://doi.org/10.1097/00041433-200204000-00008
DO - https://doi.org/10.1097/00041433-200204000-00008
M3 - Review article
C2 - 11891419
SN - 0957-9672
VL - 13
SP - 165
EP - 171
JO - Current opinion in lipidology
JF - Current opinion in lipidology
IS - 2
ER -