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Looks Like FH But it’s not FH: Extended Lipid Profile of Paediatric Clinical FH Patients Reveals a Different Lipid Profile in FH Negative Patients
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Autores
Orientador(es)
Resumo(s)
Aim: Familial
Hypercholesterolemia
(FH)
is
a
common
autosomal
dominant
disorder,
caused
by
mutations
in
genes
involved
in
cholesterol’s
clearance
(LDLR,
APOB,
PCSK
9).
Clinical
diagnosis
is
usually
based
on
high
total
cholesterol
or
LDL-C
levels
and
family
history
of
premature
coronary
heart
disease.
Using
an
extended
lipid
profile
of
paediatric
dyslipidemic
patients,
we
aim
to
identify
biomarkers
for
a
better
diagnosis
of
FH
in
clinical
settings.
Descrição
Palavras-chave
Doenças Cardio e Cérebro-vasculares Familial Hypercholesterolemia