Prémio de melhor poster.
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...
A hipercolesterolemia é um importante factor de risco cardiovascular (CV) cuja origem pode ser ambiental ou genética. A identificação de uma população jovem com elevado risco CV permite uma intervenção precoce, adiando ou suprimindo a ocorrência de doença cardiovascular na vida adulta. A Hipercolesterolemia Familiar (FH) está associada a um elevado risco CV e resulta de mutações em três genes do metabolismo dos...
A Hipercolesterolemia Familiar (FH) é uma doença genética do metabolismo lipídico causada por mutações nos genes LDLR, APOB e PCSK9. Caracteriza-se clinicamente por níveis elevados de colesterol LDL, que se vão depositando nas artérias conduzindo ao desenvolvimento de doenças cardiovasculares prematuras. De acordo com a frequência europeia (1:500) estima-se que existam cerca de 20.000 indivíduos afectados com F...
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...
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.
Financiadores do RCAAP | |||||||
![]() |
![]() |
![]() |
![]() |
![]() |
![]() |