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.