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ApoB/ApoA1 ratio improves clinical criteria sensitivity for the identification ...

Prémio de melhor poster.

Pathogenicity assessment of LDLR variants in patients with Familial Hypercholes...

Mutations in LDLR gene are the major cause of Familial Hypercholesterolemia (FH) but there are several variants described whose pathogenicity is still unknown. To date 88 different mutations in LDLR have been identified in the Portuguese population most of them, although being present in other populations, don’t have functional studies reported. A previous work recently reported by our group investigated the pa...

Pathogenicity assessment of LDLR variant: a contribution for the correct manage...

Portuguese experience on cascade screening of index patients with FH

Cardiovascular risk assessment of pediatric dyslipidemic patients

To have or not to have familial hypercholesterolaemia, that is the question: ge...

Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism with increased cardiovascular risk. The molecular basis of FH is well understood and the molecular diagnosis is extensively applied. There are several clinical criteria for the clinical diagnosis of FH. The three criteria most applied worldwide have been proposed by the Simon Broome Register Group, the USA Make Early Diagnosi...

Cardiovascular risk assessment of pediatric dyslipidemic patients

Identification of young population with high cardiovascular (CV) risk allows early intervention and prevention, delaying or abolishing occurrence of CHD in adult life. Hypercholesterolemia is an important CV risk factor that can be due to environmental or genetic causes. Genetic dyslipidemias, as Familial Hypercholesterolemia (FH), are associated with major risk of CV events.

Portuguese experience on cascade screening of index patients with FH

Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism caused by mutations in LDLR, APOB and PCSK9 genes. FH has a estimated frequency of 1:500 in most European countries. Based on this frequency Portugal should have about 20000 cases of FH, however in our country this disorder is under-diagnosed.

Is the clinical criteria important for patient identification in FH patients?

Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism with increased cardiovascular risk. The molecular basis of FH is well understood and the molecular diagnosis is extensively applied. There are several clinical criteria for the diagnosis of FH. The three criteria most applied worldwide have been proposed by the Simon Broome Register Group, the USA Make Early Diagnosis to Prev...

Inherited Dyslipidemia VS Environmental Dyslipidemia in Portuguese Children

Hypercholesterolemia is an important cardiovascular risk (CV) factor that can be due to environmental or genetic causes. Identification of a young population with high CV risk allows early intervention and prevention, delaying or abolishing occurrence of CHD in adult life. Familial Hypercholesterolemia (FH) is associated with major risk of CV events and usually results from mutations in three different genes i...