The Facts on Homozygous Familial Hypercholesterolemia

Author: TheBalancingAct

As you know a healthy lifestyle helps prevent a multitude of health issues including for example high cholestoral, but now the unimaginable. This morning in our ongoing series "behind the mystery," rare and genetic diseases we're going to discuss an inherited condition which can be extremely dangerous and sometimes even deadly. Our guest this morning is doctor pam morris a cardiologist with medical university of south carolina. Good morning doctor great. So good to see you. Im so glad your here. Lets get to it.

First lets talk about cholestoral. What causes it, and what can be done when you have it? well first it's important to recognize that there are two types of cholestoral. The hdo which is the good cholestoral, the happy cholestoral. Which you would like to be high. It helps to clear cholestoral, and the second is the ldl cholestoral which is the bad form of chlorestoral.

Lousy. Lousy. That's how you know. You want that low. And that type, is the type of cholestoral that can. When at elevated levels can circulate through the bloodstream and cause heart and vascular disease.

Unfortunately for many people. Diet and exercise are not always enough to get these levels down. And why is that? well some individuals have a rare or uncommon form of high chlorestoral that is inherited. This is called familial hypercholesterolemia. And there are two types. In the first type you inherit only one gene from one parent that is abnormal.

The Facts on Homozygous Familial Hypercholesterolemia

That is called heterozygous. Fh. Heterozygous familial hypocholestralemia. The second type is when you inherit an abnormal gene from both of your parents. We call this homozygous fh, or hofh. The signs or symptoms are very difficult to diagnose and may be silent.

And how do you know if you have it for example. Well first it's important that it be recognized and that you work with a cardiologist or lipidologist who specializes in this disorder. They're going to look at four things.

Number one. Do you have a family history of high cholestoral, or heart and vascular disease. Second. What are your personal cholestoral levels? are they elevated? third. They're going to look for physical findings do you have deposits of cholestoral in the tendons of knees, the elbows, the achilles, or around the eyes.

And finally they're going to look to see how well do you respond to traditional cholestoral level lowering medications. Doctor what if you have all four, or lets just say you have two out of the four. Well it's not neccessary to have all four criteria. There's quite a variability in the presentation and diagnosis of hofh. And if you do have this uncommon genetic disorder, is there something people can do to help control it? well of course we do always begin with diet and exercise because it can always be of some help for some individual will try whats called ldl apheresis.

Think of it as almost like dialisis for cholestoral, but that's time consuming, and the centers that perform this procedure are not widely available. Doctor is there anything else that can be done lets say medications? well now there are novel therapies for patients with hofh. So it's a very very exciting time for these individuals. I got to tell you this is great and exciting information. I want you to stay right there doctor, because when we come back we are going to put a face to this condition, your going to meet an incredible young lady with an amazing story to tell. So stay right there, well be right back. Welcome back to the show before the break we were discussing hofh a rare disease that results in high cholestoral.

We are rejoined by doctor pam morris, a cardiologist with the medical university of south carolina and also now joining us are twenty year old amanda wilson and catherine wilemon who is the president of the fh foundation. Ladies thank you so much for joining us. Doctor thank you for joining us again. Amanda let me start with you. When did you find out you had this rare disease? well i was diagnosed at age three, and it was found by my pediatrician, i went into my well check up at age three and he found the cholestoral deposits on my achilles tendon behind the knee and also between my fingers. My grandfather had it. He found out he as diagnosed at fifty nine and he was diagnosed and went through triple bypass surgery the same year. At that point my parents were just getting ready to be married, and my dad was diagnosed at twenty nine.

My mom was also later diagnosed. Doctor let me bring you back in because it's funny, when i knew amanda was coming to talk to us. I pictured honestly somebody older, overweight, she just, i guess she just didn't fit the profile of what i was thinking of. The face of this condition can vary from any from a young child diagnosed as amanda was in childhood. To a young adult such as with catherine where you.

The disease is missed until you present with your first heart or vascular event. Catherine let me bring you in as the doctor just mentioned about a heart event. Something happened to you at the age of thirty nine.

What happened, and it's actually startling to hear this. Well i had a heart attack. Wow. And when it happened i called nine one one, i knew something was wrong, the paramedics came. I told them about my elevated cholestoral.

They took me to the emergency room, and the emergency room, turned me away. Luckily when i finally did get in surgey. You know i'm here to live to tell about it. But the interesting thing was that there was a barrier because i didnt look like someone who had advanced heart disease. But you know doctor, and if i can ask you this, this is pretty serious.

This is not just a "oh you'll get over it move on, and that's it." well i think sometimes we can underestimate the risk and danger associated with high cholestoral, and hofh is a life threatening disease we're very fortunate to be here with individuals who are recieving the proper treatment. Catherine i know as a result of what happened to you, you started the foundation to create awarness and god bless you for that, tell me about it. Well yes it's called the fh foundation and we're the only non profit out there exclusevely dedicated to raising awareness of fh, both hofh, and the more common form of familial hypocholesteralemia. And we're doing this through education, advocacy, and research.

Because the startling fact is that more than eighty percent of the individuals that have this disease are undiagnosed. And doctor with katherine and amanda speaking about it, and you. This is really key.

To bring that awareness to everbody out there and just to learn more about this. It's very important to be tested. Particularly if you have a family history of premature heart disease or of high cholestoral. Talk with your doctor. Amanda i want to end with you because your such an inspiration.

Any final words? even though i am an hofh patient, i still hang out my friends, participate in sports, i am an education major at college, and this disease has not stopped me yesterday, today, and it wont stop me tomorrow. Awe god bless you, good luck to you. Thank you so much. Thank you. And if youd like more information about hofh to learn what you can do to spread the word about this disease. Visit a couple of websites. The first one.

The, or contact the national lipid association at

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