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My name is Steve Humphries.
In the second part we're
going to talk about
cascade testing and comparing
monogenic and polygenic
causes of the FH phenotype.
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In 2008 the UK NICE guidelines
were developed and
they were updated in
2017 and they have a number of
different
recommendations and I'm
just going to give you
some of the headlines.
Their aim for
treatment is to lower
LDL cholesterol by at
least 50% from baseline.
I've already shown
you that that's
feasible but it certainly
doesn't deal with
all the problems of people
with extremely high
LDL cholesterol.
The European Atherosclerosis
Society, the
EAS has set a target of 2.5mmol/l
if an individual with FH
doesn't have heart
disease and 1.8mmol/l
if they do have heart disease,
and with the new agents
those targets are now
certainly achievable.
The guidelines say
that for diagnosis
all individuals should
be offered a DNA test to
confirm the diagnosis
and to assist in
cascade testing of
relatives and I'll
explain how cascade
testing works later.
In children under the
age of 10 at risk of FH,
in other words they
have one affected
parents, they should be offered
a DNA test at
the earliest opportunity
and definitely by 10 years,
because 10 years is the
age when you should
consider initiation
of statin treatment.
Finally, the guidelines say
that identifying people
with FH using
cascade testing and
DNA information
is recommended to
identify the affected
relatives and here,
a document that
we produced about
implementing a systems approach
to detection and management,
and it's available for you
to download using the link.
Once again very clear knowing
the family mutations
a key piece of
information for testing
relatives and for
starting statin therapy
particularly in childhood.
But now why not simply measure
LDL cholesterol isn't that
going to be diagnostic enough?
