Journal of Atherosclerosis and Thrombosis,
Journal Year:
2021,
Volume and Issue:
unknown
Published: Jan. 1, 2021
Familial
hypercholesterolemia
(FH)
is
an
inherited
disorder
with
retarded
clearance
of
plasma
LDL
caused
by
mutations
the
genes
involved
in
receptor-mediated
pathway
and
most
them
exhibit
autosomal
dominant
inheritance.
Homozygotes
FH
(HoFH)
may
have
LDL-C
levels,
which
are
at
least
twice
as
high
those
heterozygous
(HeFH)
therefore
four
times
higher
than
normal
levels.
Prevalence
HoFH
had
been
estimated
1
1,000,000
before
but
more
recent
genetic
analysis
surveys
predict
170,000
to
300,000.
Since
receptor
activity
severely
impaired,
patients
do
not
or
very
poorly
respond
medications
enhance
activity,
such
statins,
a
poorer
prognosis
compared
HeFH.
should
be
clinically
distinguished
from
Thorough
family
studies
recommended
for
their
accurate
diagnosis.Fatal
cardiovascular
complications
could
develop
even
first
decade
life
HoFH,
so
aggressive
lipid-lowering
therapy
initiated
early
possible.
Direct
removal
lipoprotein
apheresis
has
principal
measure
these
patients.
However,
this
treatment
alone
achieve
stable
target
levels
combination
drugs
considered.
The
effects
statins
PCSK9
inhibitors
substantially
vary
depending
on
remaining
individual
On
other
hand,
action
MTP
inhibitor
independent
it
effective
cases.This
review
summarizes
key
clinical
issues
well
insurance
coverage
available
under
Japanese
public
healthcare
system.
Circulation Genomic and Precision Medicine,
Journal Year:
2020,
Volume and Issue:
13(4)
Published: July 23, 2020
Advances
in
human
genetics
are
improving
the
understanding
of
a
variety
inherited
cardiovascular
diseases,
including
cardiomyopathies,
arrhythmic
disorders,
vascular
and
lipid
disorders
such
as
familial
hypercholesterolemia.
However,
not
all
practitioners
fully
aware
utility
potential
pitfalls
incorporating
genetic
test
results
into
care
patients
their
families.
This
statement
summarizes
current
best
practices
with
respect
to
testing
its
implications
for
management
diseases.
JAMA Cardiology,
Journal Year:
2020,
Volume and Issue:
5(2), P. 217 - 217
Published: Jan. 2, 2020
Importance
Familial
hypercholesterolemia
(FH)
is
an
underdiagnosed
and
undertreated
genetic
disorder
that
leads
to
premature
morbidity
mortality
due
atherosclerotic
cardiovascular
disease.
affects
1
in
200
250
people
around
the
world
of
every
race
ethnicity.
The
lack
general
awareness
FH
among
public
medical
community
has
resulted
only
10%
population
being
diagnosed
adequately
treated.
World
Health
Organization
recognized
as
a
health
priority
1998
during
consultation
meeting
Geneva,
Switzerland.
report
highlighted
11
recommendations
address
worldwide,
from
diagnosis
treatment
family
screening
education.
Research
since
increased
understanding
FH,
particularly
specialty
areas,
such
cardiology
lipidology.
However,
past
20
years,
there
been
little
progress
implementing
prevent
disease
entire
generation
families
with
FH.
Observations
In
2018,
Hypercholesterolemia
Foundation
Heart
Federation
convened
international
update
recommendations.
Two
meetings
were
held:
one
at
2018
Global
Summit
other
Congress
Cardiology
Cardiovascular
Health.
Each
served
platform
for
examine
original
recommendations,
assess
gaps,
provide
commentary
on
revised
Call
Action
thus
represents
individuals
advocacy
leaders,
scientific
experts,
policy
makers,
authors
report.
Attendees
40
countries
brought
perspectives
low-,
middle-,
high-income
regions.
Tables
listing
country-specific
government
support
care,
existing
statements
guidelines,
registries,
known
organizations
created.
Conclusions
Relevance
By
adopting
9
updated
created
this
document,
covering
awareness;
advocacy;
screening,
testing,
diagnosis;
treatment;
family-based
care;
registries;
research;
cost
value,
individual
have
opportunity
heart
their
citizens
carrying
gene
associated
and,
likely,
all
those
severe
well.
JAMA Cardiology,
Journal Year:
2020,
Volume and Issue:
5(4), P. 390 - 390
Published: Feb. 12, 2020
Importance
Monogenic
familial
hypercholesterolemia
(FH)
is
associated
with
lifelong
elevations
in
low-density
lipoprotein
cholesterol
(LDL-C)
levels
and
increased
risk
of
atherosclerotic
cardiovascular
disease
(CVD).
However,
many
individuals
have
a
polygenic
rather
than
monogenic
cause
for
their
condition.
It
unclear
if
genetic
variant
alters
the
CVD.
Objectives
To
assess
whether
CVD
to
evaluate
how
this
compares
that
nongenetic
hypercholesterolemia.
Design,
Setting,
Participants
In
genetic-association,
case-control,
cohort
study,
aged
40
69
years
were
recruited
by
UK
Biobank
from
across
United
Kingdom
between
March
13,
2006,
October
1,
2010,
followed
up
until
31,
2017.
Genotyping
array
exome
sequencing
data
used
identify
(LDLR,APOB,
andPCSK9)
or
(LDL-C
score
>95th
percentile
based
on
223
single-nucleotide
variants
entire
cohort).
The
analyzed
July
2019,
December
30,
2019.
Main
Outcomes
Measures
study
investigated
association
genotype
coronary
carotid
revascularization,
myocardial
infarction,
ischemic
stroke,
all-cause
mortality
among
overall
population
participants
FH
(n
=
277),
2379),
undetermined
2232)
at
comparable
LDL-C
measured
enrollment.
Results
For
48
741
genotyping
data,
mean
(SD)
age
was
56.6
(8.0)
years,
54.5%
female
26
541
741).
A
found
277
(0.57%,
1
176
individuals).
Participants
significantly
more
likely
those
without
experience
an
event
55
younger
(17
[6.1%]
vs
988
464
[2.0%];P
<
.001).
Compared
general
population,
both
events.
Moreover,
LDL-C,
(hazard
ratio,
1.93;
95%
CI,
1.34-2.77;P
.001)
1.26;
1.03-1.55;P
.03)
events
compared
such
identified
cause.
Conclusions
Relevance
findings
suggest
hypercholesterolemia,
determinants
may
impose
additional
Thus,
understanding
possible
provide
important
prognostic
information
treat
patients.
American Journal of Preventive Cardiology,
Journal Year:
2021,
Volume and Issue:
5, P. 100149 - 100149
Published: Jan. 23, 2021
Given
rapid
advancements
in
medical
science,
it
is
often
challenging
for
the
busy
clinician
to
remain
up-to-date
on
fundamental
and
multifaceted
aspects
of
preventive
cardiology
maintain
awareness
latest
guidelines
applicable
cardiovascular
disease
(CVD)
risk
factors.
The
"American
Society
Preventive
Cardiology
(ASPC)
Top
Ten
CVD
Risk
Factors
2021
Update"
a
summary
document
(updated
yearly)
regarding
This
"ASPC
reflects
perspective
section
authors
ten
things
know
about
sentinel
It
also
includes
quick
access
references
(applicable
select
reviews)
each
factor
section.
factors
include
unhealthful
nutrition,
physical
inactivity,
dyslipidemia,
hyperglycemia,
high
blood
pressure,
obesity,
considerations
populations
(older
age,
race/ethnicity,
sex
differences),
thrombosis/smoking,
kidney
dysfunction
genetics/familial
hypercholesterolemia.
For
individual
patient,
other
may
be
relevant,
beyond
discussed
here.
However,
intent
provide
succinct
overview
common
cardiology.
