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Publication
Using percentiles to diagnose familial hypercholesterolemia in Portugal
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Advisor(s)
Abstract(s)
Aims: Familial
hypercholesterolemia
(FH)
is
a
genetic
disorder
of
lipid
metabolism,
clinically
characterised
by
high
levels
of
low-density
lipoprotein
cholesterol
(LDL-C)
that
leads
to
cholesterol
accumulation
in
tendons
and
arteries,
premature
atherosclerosis
and
increased
risk
of
premature
coronary
heart
disease.
In
1999,
the
Portuguese
FH
Study
was
established
at
the
National
Institute
of
Health
to
identify
the
genetic
cause
of
hypercholesterolemia
in
individuals
with
a
clinical
diagnosis
of
FH
and
to
perform
an
epidemiologic
study
to
determine
the
prevalence
and
distribution
of
FH
in
Portugal.
In
the
last
16
years,
a
genetic
defect
was
identified
in
749
patients,
representing
3.
7
%
of
the
cases
estimated
to
exist
in
Portugal.
Index
patients
were
included
in
this
study
using
the
Simon
Broome
(SB)
criteria.
However,
there
are
different
FH
clinical
criteria
to
diagnose
index
cases.
Since
there
are
no
clinical
criteria
to
identify
relatives
with
FH,
the
aim
of
this
work
was
to
investigate
if
a
diagnostic
tool
based
on
population
specific
95
th
percentile
improves
the
clinical
identification
of
Portuguese
FH
patients
comparing
with
SB
criteria.
Description
Keywords
Doenças Cardio e Cérebro-vasculares Familial Hypercholesterolemia Portugal
Pedagogical Context
Citation
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP