For the seventy-one million Americans who've had high
cholesterol; there are ways of managing their numbers through
diet and exercise But imagine being diagnosed with a genetic
disorder that causes soaring levels of plaque building
cholesterol often since birth That if left undiagnosed and
untreated can cause aggressive pre-mature heart disease or
stroke.
Coming up, What you need to know about a dangerous
inheritance known as, "Familial Hypercholesterolemia" or FH.
I am Ereka Vetrini in New York,
Access Health starts now!.
(music) We all know that an
unhealthy lifestyle can lead to high cholesterol And that too
much cholesterol in your blood can lead to heart disease or
stroke.
Which if left untreated can have devastating
consequences.
(Music) For the one in two hundred and fifty
individuals afffected by the most common form of FH Eary
disgnosis and treatment of often soaring levels of cholesterol
can lead to better outcomes.
But for those with a rarer form of
"FH" called, "Homozygous FH" or "HOFH", that causes extreme
levels of cholesterol Often since before birth, the promise
of life threatening consequenced rings all too true, sometimes
loudly and often without warning.
FH is life threatening exposure over a lifetime , very
high cholesterol levels can lead to early and aggressive heart
disease, heart attacks and early death.
Anywhere between one to ten percent of these patients
are being diagnosed right now in the United States.
So that means, probably ninety-percent
are not being told they have a potentially life threatening
condition that can be treated.
I went to the doctor for a routine
check up and I had a heart attack, in the doctors office,
so I was first code blue at that hospital And I was thirty-five
years old.
(Music) with FH other wise known as "Familia
Hypercholesterolemia" is an inheritant and genetic disorder
that results in an abnormalty in the way we clear cholesterol
from the blood stream.
Often times we make more of it than we
should, or sometimes we even absorb more of it Than we
should.
But the end result the accumulation of a lifetime of
high cholesterol.
This process begins, from birth; so one of
the major issues of this condition is people have high
cholesterol from day one.
And so they have the ability to
accumulate cholesterol deposition in their artery walls
from a very early age, so it's not just that they have high
cholesterol, but that their blood vessels are exposed to
high cholesterol over the course of their lifetime.
And what this does, it is increases the risk
of blood getting into the artery wall and starting the process of
what we call, "Atherosclerosis" or heart disease.
(Music) Heart disease has always been apart of
my life, I cannot remember life without heart disease in it.
My father who has FH, he had his
first heart attack when he was twenty-eight years old.
So some of my very earliest memories of
my life are being in the hospital, we always knew that
was very prevalent on my fathers side of the family.
He had six uncles and aunt and four of them
have had heart attacks in life ; this is something that we knew
about.
The way someone inherits this is from their mother, or
the father or both.
The different types of Familia
Hypercholesterolemia one can either inherit one abnormality
or two abnormalities.
And this can lead to two different
expression of the condition, one is called, "heterozygous" and
the other is called the,"Homozygous".
People who have the heterozygous condition,
its more common and it is not as severe as the homozygous
condition.
But both of them are significant, and they both do
cause early heart disease.
It's just a question of, how early
and how severe?.
When I was five, my parents noticed that I
have these things behind my back of my knees and the back of my
achilles heel and we didn't know what there were at that time And
we know now that they are xanthomas, but because of that
those xanthomas and my dad's history and my grandfathers
history, they took me and my sister Who is a year older to
have our cholesterol checked, and when I was five it was well
above eight hundred.
So that was when we had confirmation for
sure that I had inherited FH from my family.
My father who had heart disease already his
was never as high as mine, so that was a sign to us In
addition to having xanthomas physical manifestation of the
skin that this, mine was different, different from my
fathers.
We didn't have maybe a word for it But we knew that it
was worse, which at five was pretty scarey to have already
seen your father have a chest scar, things like that and be
told your's is worse than his.
So that was scary I think for everyone, my parents were open
to trying whatever new medication came on the market to
just, for all of us To try and bring my cholesterol down, to
try and move that time horizon out in anyway that we could.
So by the time that we were fifteen
I had been on medication for tens year I was seen a
cardiologists regularly and we knew that I needed aggressive
treatment.
So we were finding the best specialist we can
find."
HOGH", patients because of the severity of the
cholesterol elevation can develop heart disease or
osteoperosis earlier on in life, first or the second decade.
That means, they're often cared for
by a team of practioners, the cardiologist in many cases, a
cholesterol specialists, we called a "lipidologist".
Seeing cardiologist maybe four or five
times out of the year, and getting labs done and through
the echo's we started to see that I have been born with a
Bicuspid aortic valve, also starting to show signs of severe
aortic stenosis, which is a narrowing of the aortia in the
aoritic valve and that Can cause problems.
One of the symptoms of that is sudden death, which is
obviously a symptom you would like to avoid.
Patients with Homozygous hypercholesterolemia,
also at significantly greater risk for a condition that
affects one of the valve of the heart.
It's called "Aortic Stenosis" and they develop
aortic stenosis because of increased palcification of the
valve at a much earlier age than we would otherwise see it in
patients who don't have Familia Hypercholesterolemia.
We've seen an evolution on the development
of Pharmacological intervention that can help patients.
Really alter the course of their
disease.
I was on the maximum statens and other drugs that
were available and still my cholesterol was always over five
hundred, so we just weren't able to get into a reasonable range
with medication alone.
There are patients who may not be able to
get there cholesterol down for that, we actually do a procedure
that is called, "LDL Apheresis" the blood is removed and passed
through a filter and the cholesterol is removed from the
blood and returned back to the patient.
And it can be done on top of standard medication and
it works very well to lower the cholesterol.
I started Apheresis back in two thousand and one, I
ended up doing it for eleven years, it was really the only
thing that was getting any sort of good results from, starting
around twenty-seven years old or so ago I was in that season
where a alot of people were getting married, so I would go
to weddings and I would dance at a reception and get out of
breath.
Then I would have to sit down and it was a noticeable
change for me And then it became not just when you were dancing
but when you were going up the stairs or taking a walk around
the block that I would start to feel out of breath.
And that worried me, you know I have seen
that in my father and that scared me.
The doctor said it's time, it's time to replace the
valve and do a bypass at the same time.
My whole life I knew, my dad's first heart attack was
at twenty-eight and whether it was based on any sort of reality
or not, I thought If can get pass twenty-eight without having
a heart attack, having heart surgery.
Then maybe my future will be different from his.
So I clung to that, nobody told it to
me, I just came up with it on my own.
Then to go into a bypass and valve replacment at
twenty-eight, it was upsetting and it was dissappointing And I
felt like I haven't changed my future, this is still apart of
what my future will be.
(Music) Welcome back, I'm meeting today
with Cat Davis Ahmed Director of Outreach at FH Foundation.
Cats journey with FH has been a
personal one.
Thank you so much for spending sometime with me
Kat.
Thanks Ereka for having me.
So on the way over we had our little chat, and you said
something very interesting to me, as someone who lives with FH
and who's had a family history of FH What your normal is?
"What's interesting for people with Famila Hypercholesterolemia
is that, because it's characterised by your high
cholesterol levels and family history, these are generally
families like mine for whom there's just this long history,
of early heart attacks and pre-mature deaths from heart
disease.
So that is kinda expected, that's their normal.
So for example, in my case I inherited the FH gene from my
father and normal gene from my mother.
And so I have the common form of FH known as
"Heterozygous"FH about one hunred of two hundred and fifty
perople.
So my cholesterol level is two or three times higher
than what it should be.
And I know that based on a simple
cholesterol bloodtest, of my LDL and my family history.
Which in my family is very clear My
father has three brothers, myself, my two sisters.
So for our family the normal was that
we are waiting for him to have a heart attack; it was'nt a
question of if But when, and what's kind of curious is, we
accepted that and I hear from alot of families, for whom that
is, that's normal.
And they just take it as they come and they
expect it.
But for now, for me and my generation, for my
children's generation, and for all those other people with
Familia hypercholesterol-Emia out there.
I think That isn't acceptable.
There is hope now,"And so is this sort of what
fuels your passion for the FH Foundation?" because you are the
director of the FH Foundation.
"So is that why you're there?"..
"So I knew I had high cholesterol and that it was
genetic, I didn't have the words for it and I find that that's
pretty common.
When I did google it, I found the FH foundation
online.
And I thought to myself, oh my goodness it is a thing,
it's not just something that affects my family, but it
affects other people And I learned that is was in fact
pretty common.
So I was inspired and excited to find the website
and I volunteered immediately.
And I was so taken by the mission that I was so taken by
the mission that I was doing more and more and started to
wotrk for the foundation."
"Cat, how do you know if you have FH
or if it runs in the family ?" "Well all too often
unfortunately, alot of people find out that they have FH after
they have a heart attack, or a bypass or stems.
So FH can be diagnosed really you just need
to know your cholesterol level, your LDL cholesterol level with
a simple blood test.
And to understand your family history".
"So if we're diagnosed with FH, what does this mean for our
families for our kids?"
Whenever a person is diagnosed with FH,
it is really important to communicate with the entire
family actually.
Get you children screened, have their
cholesterol checked.
The American Academy of Pedeatrics
recommends the universal cholesterol screening for all
children between the ages of nine and eleven.
And it hurts to see, to find at that age, and
that's only one two hundred and fifty people.
And actaully it stands out like a soar thumb if
you find it in a child.
"Cat, how does FH affect the day to
day?"
The way that FH affected my day to day is, I think on two
levels, one is that it's something that I do worry about
on a daily basis quite frankly.
And there are times when I lie in bed and wonder if I will wake
up in the mornings.
But in term of, the practical day to day and
the thing that really helps me to feel more confident is, I do
take medication for it and I do know that is reduces my numbers
and I know that, that medication will reduce my risk for a heart
attack.
The great news about FH is that it is treatable, there
are several treatments out there available to us, help us
to manage this high cholesterol levels.
And really slow the progression of heart disease,
and prevent heart disease and early death.
(music) When I was thirty-five, I went to the
doctor for a routine checkup and I had a heart attack into the
doctors office.
I was without a heartbeat for three minutes,
Fortunately it happened while I was in a doctor's office and
when I woke up, I new that something very bad had happened.
So after my bypass and aortic valve replacement, I went
through cardiac re-hab, there were some bumps along the way, I
think there always are.
But within a couple of months I was
back to a pretty normal life; I have five niece and nephews
between my brother and sister and two of them have FH.
My son so far has been within the
normal limits within his cholesterol, so that is
something we will continue to keep an eye on with him.
And then our daughter, who is
adopted ironically has been identified as having high
cholesterol.
So FH is common And it is possible that hers is
genetic as well, we don't know; but that will be something that
we watch for her too.
Familia Hypercholesterolemia is often
far more common than we often think, the less sever form
heterozygous hypercholesterol-Emia is
probably seen in one in two hundred and fifty people
globally.
Homozygous Familia Hypercholesterol-Emia is
probably about one in three hundred thousand, anywhere
between one to ten of these patients are being diagnosed
right now in the United States.
So that means ninety-percent are probably not being told that
they have a potential life threatening condition that can
be treated.
My cardiologist found a clinical trial for me to
be apart of and apart of that participation we did genetic
testing; just to confirm the FH diagnosis And at
thirty-five years old to my surprise the genetic results
came back to show that in fact I did not have heterozygous FH,
but I have Homozygous FH.
Meaning I have gotten it from both of our parents, and so all
of a sudden everything did make sense.
I think it was shocking for everybody, not the least of
which was my mother because we always kind of had this coming
from my dad in our minds.
So then you start looking at, and
you go well my paternal grandfather did
have and attack in his fifties and my maternal grandmother had
heart problems.
Me and my mother's cholesterol have never
been particularly high, she does have these painful bumps on her
feet that are likely xanthom's and so you do look at things
from a different angle.
And it makes you kinda realize, even
when you felt that you really on top of things, there are still
things that you miss.
We don't find an individual with FH, we
find a family.
(Music)
welcome back everyone I am here with
Cat, the director of Outreach for the FH foundation.
We have now seen, and we've heard what
it is like to live with FH.
Cat, let's talk more about the
foundation and what are some of the resources they provide.
The FH foundaton is really there for
patients and also for healtcare providers, they have alot of
resources on our website, for patients and healthcare
providers.
To help educate them about the prevalence of FH, the
genetic of FH, FH management.
But another really important resource that we have is,
support for other people with FH.
We have a community online for people to talk to each other
and get that peer support and ask question of each other, like
what is it to live with FH? and what are people experiencing?
So it seems like there are powers
in numbers?
"There is, I think there is alot of power in
bringing people together who have FH so that they can learn
from each other.
And take that information, learn from our
website, and from other resources that we have, webinars
for example and then be their own advocate when they go back
and talk to healthcare providers, talk to their family.
We also have this amazing project called the"Pasquade FH
registry".
It is a national registry, the only kind in the
United States that is for FH.
That looks at, the current experience and diagnosis for
people with FH in the Unitet States.
"And what sort of information to we pull from the
resgistry?"
So what we are able to pull from this registry is,
instead of say looking at my story, my personal story , which
is a example of one person.
Through the registry we're able to put togther all that
information and generate data on what does FH look like in the
Unites States today.
And with information, you can help to
improve diagnosis, improve treatment and help people to
understand on a individual basis, how they compare to
others.
Help policy makers understand there's really a need
for better diagnosis and better treatment.
It's wonderful that the patients are both able to
give and get information.
Yes, wonderful And we also spoke to
Dr.Underberg about the importance of the registry for
clinical perspective and this is what he has to say.
From the perspective of the healthcare
provider, what's important to us is, that my patients are
entering in their imformation, giving us imformation about when
they were diagnosed, how they were diagnosed, what treatment
there are on and what is equalent to the disorder.
We learn more about the natural
history of the disease and as experts in the field we can take
that information and then we can tell people about it.
And that alters the way we think about
the condition.
There are alot of treatments available, and right
npw what I am doing right now, is combining the healthy
lifestyle that I have always tried to live with two or three
drug protocol.
We have actually been able to stop aorpaiss with
some of the new generations of medications, so that's been
great for me from a lifestyle point of view.
And I am very hopeful for the future,there is
alot in the works and specifically for HOFH as well.
That I think will be options for me and the next generation and
my family.
The exciting thing for me is as we move forward,
the management and care of patient with Familia
Hypercholesterolemia.
Keeps improving everyday and so that
tells me that the outlook for the future is bright.
Not only for patients who have FH but for
the children they haven't had yet.
Cat, thank you so much for joining us, Where can we find
all the information we talked about today?
Thank you Ereka, You can find all the information
we talked about today on our website at thefhfoundation dot
org or on facebook and twitter. and I would also like to thank
Dr. Underberg and Allison for all of their insight and of
course you can find all the information we talked about
today at our website at accesshealth.tv.
See you next time.
(Music)
For more infomation >> how i really feel about kids.. - Duration: 7:12. 
For more infomation >> Avicii - Wake Me Up (Перевод в субтитрах) - Duration: 4:33. 
For more infomation >> Microgaming Loose Cannon Online Slot Game - Duration: 1:05. 
Không có nhận xét nào:
Đăng nhận xét