Familial Hypercholesterolemia Is In The Genes: Do You Have It?

FH: A common disorder, an uncommon diagnosis

iStock_000016811435_Medium-300x199Familial Hypercholesterolemia (FH) is more common than one might think, yet it often goes unnoticed or misdiagnosed. At least 1 in 500 people are affected by it, but most of them simply get told that they have high cholesterol, and need to manage their diet and exercise regime. Some people feel fatigue and experience symptoms of a heart attack, but are wrongly diagnosed to have hypertension or even depression. This leads to uncertainty, fear, and even unnecessary or wrong medication.

In this case, FH is confused for other, more popular conditions. This is why one of the goals of the Family Heart Foundation is to raise awareness of FH both in the public and in the medical realm. If any of the above symptoms sound familiar, consult your cardiologist about the possibility of FH.

Other cases are more shocking, with FH remaining ‘invisible’ for years. Many people lead perfectly healthy lives and look healthy too, yet their cholesterol levels are higher than normal or they have a heart attack at a relatively early age.

The genetics of FH

FH is a genetic disorder, meaning that it is inherited. It’s not contagious, but once you have it, it’s a lifelong condition. All first-degree relatives of an affected individual have a 50% chance of having FH too. This includes parents, siblings and children. FH also has a more rare but much more severe form called Homozygous FH (or HoFH). This can occur when both parents pass on the FH gene to their children (there is a 25% chance of that happening).

FH is caused by mutations in the so-called LDL-receptor gene (low-density lipoprotein gene). This receptor facilitates the clearing of excessive cholesterol from the bloodstream. The LDLR gene in FH patients doesn’t work properly. Therefore, cholesterol cannot be removed effectively and starts building up from an early age. Some people may develop fatty deposits in the skin, around the elbows, knees, and tendons. These are called “xanthomas”.

Know your history, change your future

If exceeding levels of cholesterol, early atherosclerosis or premature heart disease are common in your family, get to know your relatives’ medical records and speak to a lipid specialist. While FH is not curable, it is treatable. FH causes cholesterol to deposit in the arteries and over time leads to their narrowing and blocking, resulting in cardiovascular disease. This is why early diagnosis and proper treatment are crucial.

Testing includes a simple blood sample, but genetic testing is also available if family history shows evidence of FH. FH is manageable and the sooner you identify it, the more you can do to improve your health and live longer.  Ask your doctor, know your options, be an active partner in your health.

6 Responses to “Familial Hypercholesterolemia Is In The Genes: Do You Have It?”

  1. Lin-Marie

    My uncle died at the age of 38 with a massive heart attach. My grandfather died at the age of 65. Am I genetically higher because of them? I am now 62 almost 63 and have high cholesterol. I also have recurring-relapse NHL B Cell and follicular blood cancer. Dioagnosed December 2006. Currently it’s September 2013.

  2. Tom Keck

    The above FH page gives no information about FH treatment except to say that any reason for high cholesterol causes the same plaque and heart disease symptoms. So what exactly is the difference with having FH cause the same symptoms as without FH? Is there different medication for the same symptoms or some different treatment with FH? I’m adopted and have no family history but definitely have FH so would like more specific information. Thanks

    • Chio

      I have read Gary Taubes’ book and there is one very important point he makes that will get the aeitntton of those of us who are on Statins. That point is that LDL is not relevant to heart disease or metabolic syndrome. He claims that the only credible evidence indicates that triglycerides and HDL are the important factors. What you want is high HDL and low triglycerides and if you have this, forget the LDL reading. That is precisely my situation and I plan to challenge my doctor on this at my next appointment. Can I stop taking the 20 mg of Crestor each day?I have been on Zocor for 20 years and recently switched to Crestor to further lower my LDL. I have never had muscle pain of any kind and my liver tests are always good. I did take CoQ10 for awhile, but I could not detect any difference. Perhaps for those of us who can tolerate statins CoQ10 is not necessary?Barry S

  3. Hasmukh Shah

    I am 64 years old and have family history of high -cholesterol and BP. I am vegetarian all my life and not over weight. I do work-out regularly.
    I was on Lipitor for 20+ years. But since January I had muscle aches and fatigue so I stopped taking statin for 9 months. My cholesterol levels went up. So I restarted on statin but with Provocol. I find similar side effects. Now I switched to another statin тАУ Livalo. I am feeling the same effects. I need help!

  4. vapour cigarette

    wonderful submit, very informative. I wonder why the other specialists of this sector do
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  5. Joy

    I live in an extremely small town. My sons cholesterol level was 244 at age 12. That test was taken almost a year ago. He is 59 inches tall and ways 135. He is very active in sports throughout the whole year. I have noticed him becoming increasingly out of breath for the same amount of exercise. My grandmother passed from heart disease , my grandfather from massive heart attack at age 54. On his father side, they lost him at age 52 due to liver damage. My brother just received open heart surgery at age 38 for a bicuspid valve and anurism on his heart. My father has a pacemaker. My mother has had 3 Tia. If there is a genetic disorder how can we find out? I’m not sure the risks of my sons cholesterol being that high, I want to help him get proper treatment. My son also gets yellow orange places on his skin. Please help if you have any insight or medical understanding of the genes that may cause this. What risk factors should I be watching for?


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