RT Journal Article
T1 Familial Hypercholesterolaemia Diagnosis and Management.
A1 Alonso, Rodrigo
A1 Perez de Isla, Leopoldo
A1 Muñiz-Grijalvo, Ovidio
A1 Diaz-Diaz, Jose Luis
A1 Mata, Pedro
K1 Familial hypercholesterolaemia
K1 cascade screening
K1 genetic testing
K1 statins
AB Familial hypercholesterolaemia is the most common monogenic disorder associated with premature coronary artery disease. Mutations are most frequently found in the LDL receptor gene. Clinical criteria can be used to make the diagnosis; however, genetic testing will confirm the disorder and is very useful for cascade screening. Early identification and adequate treatment can improve prognosis, reducing negative clinical cardiovascular outcomes. Patients with familial hypercholesterolaemia are considered at high cardiovascular risk and the treatment target is LDL cholesterol
YR 2018
FD 2018
LK https://hdl.handle.net/10668/25880
UL https://hdl.handle.net/10668/25880
LA en
DS RISalud
RD Apr 6, 2025