Do I Have Familial Hypercholesterolemia?

I had a call from my sister this morning.  She sounded a little rattled, and told me she thinks she has “it”.  She was talking about Familial Hypercholesterolemia (FH).  Results from a recent lipid panel showed total and LDL cholesterol levels high enough to meet the screening guideline for FH in someone with an affected parent.

As I mentioned in earlier posts, my mother comes from a family with a high risk of heart disease.  She is a great example of how a tough spirit increases longevity. Despite a history of high cholesterol, hypertension, arrhythmia, and several heart surgeries, she is still ticking at 86.

Since she was recently diagnosed with FH, my siblings and I have become very interested in this genetically transferred lipid disorder.  In children of affected individuals, there is a 50% chance of having it.  Although triglycerides are often normal, total and LDL cholesterol are very high.  My mom’s cholesterol is 414 and her LDL is 327.

The real problem in FH is that LDL is not effectively removed from the body, although there are at least a thousand different possible genetic malfunctions that can cause this.  The likelihood of having early heart attacks is high, as is the chance of dying younger than expected.

Women with FH seem to do better than men, which is largely due to the protective effect of estrogen before menopause.  At the risk of over-sharing, I will tell you that I am very close to that point in my life.  So far my cholesterol level has been only borderline elevated, but I am more than mildly curious to see what will happen as my estrogen levels drop.

My sister has an underactive thyroid and probably needs a tweak to her medication.  This makes her results less definitive, since untreated (or undertreated) hypothyroidism can be responsible for elevated cholesterol levels.  Her plan is to try to handle the thyroid issue first and then repeat the lipid panel.  She will also have her three kids tested, since statistically at least one of them would be likely to have FH if she does.

I am planning to have my cholesterol levels checked next week, so we shall see . . .

If you have a high risk of heart disease in your family, it is important to gather information about relatives.  It can help you figure out what is actually going on, what to do about it, and how to get early treatment for younger family members.  When caught early – screening is recommended at age 10 in families with known FH – treatment can reduce the risk relative to that of the general population.


4 responses to “Do I Have Familial Hypercholesterolemia?

  1. I was diagnosed with hypothyroidism a year ago, and had high cholesterol at the time (in the 500’s). I didn’t know much about cholesterol at the time, so I ignored, AS DID MY DOCTOR!! I went to have my thyroid rechecked last week, and my cholesterol was 750. Finally, the PA I was talking to said he thought it was familial. I had never heard of it, so now I am doing research. I had a Great Aunt that recently died (age 91) that was never diagnosed, but I just found out she never had chol. level below 450. This was a woman that never weighed over 90 lbs her whole life. I think it’s pretty evident I have FH. I’m 31 and so far the first in my family (about to be) diagnosed.

    • Thanks for your story! I know that hypothyroidism can affect cholesterol levels, so I am surprised that it went up after treatment. Is it well controlled yet? I too am impressed when people can have extremely high cholesterol levels and live long lives. My mother is an example of that. There is clearly more than just cholesterol involved in the development of heart disease, and it is encouraging that people can do well even with those high levels. I’m sure you will be motivated to do all that you can with lifestyle to increase your chances of avoiding problems.

  2. I have already been making changes. I forgot to mention that my thyroid was off again this last checkup, and my meds had to be adjusted. So that might be why my levels went up. One of my brothers has very high blood pressure, which apparently goes along with FH, so I told him he might want to get checked. Of course, I’m mostly concerned for my little boys. For now, I guess I can only try to set the healthy example.

  3. kimthedietitian

    You may want to have your boys’ cholesterol level checked. I recently read that when there is a high risk family, children can be screened (cholesterol level) at age 2. You can certainly make a difference by starting with lifestyle factors at a young age – of course in a gradual and realistic way. Keep in touch. I would be interested in what you learn.

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s