Nocturne
Well-known member
So I finally got the kids' blood work done and am waiting in the results. Meanwhile, my father, who got HIS Lp(a) checked weeks ago, finally heard from HIS doctor what the results were.
Now there are two main alleles that seem to control Lp(a), at least in Caucasians. We know that I have two copies of one of the bad ones, the one that also greatly increases a person's odds of acquiring aortic valve stenosis. We also know that my father has ONE copy of that same allele (he had the same genetic tests done that I did).
By extension, we also know that my kids ALL have at least ONE copy of that same bad allele, as it's the only one I could have given them.
My oldest has a Caucasian mother whose Lp(a) and genetic makeup are unknown to us; from what I have read it would seem that she has a roughly 10% chance of having one copy of the bad allele, and if she does then there is a 50% chance our son has two. That's about a 5% chance altogether.
My other three children have an Indian mother, whose parents immigrated here. This is where it gets "interesting". On the one hand, it would seem that the particular bad allele (or genetic "spelling error") I am afflicted with is not nearly as common in the Indian population, if it exists at all -- that's good news. BUT, Indians do tend towards high Lp(a), which is bad news. There is probably another allele in their population that tends to raise Lp(a); we know if like 50 or so that control it in part, but again there are two that control it far more than any of the others in the Caucasian population.
So the upshot -- my father, who has one copy of the bad allele, has an Lp(a) of 75.
That's just barely enough to place him in the "high risk" category. His doctor, of course, told him that it was high but not to worry about it because he was on a statin. HE had the opinion that *I* didn't need to worry about it either, because he was just as bad as I was and HE didn't need to worry. I rubbed my temples and explained once again that 75 or above was "high risk", 125 or above was "very high risk", and my score was a cartoonish "X-man" level of 390. He countered that there were different units of measurement and our tests must be different, and I asked him if his used nmol/L or mg/dl. He didn't know but he knew that the doc told him a 30 or so was normal. OK, I told him, that's nmol/L, and that's the scale they used for me. There was a pregnant pause (we were on the phone) as I think some things finally started to dawn on him.
"You're 390?" he asked.
"Yes. And I've already got calcific degenerative aortic valve stenosis, and coronary artery disease typical of a 70 year old guy, at the age of 43. My body is an atherosclerosis machine."
Another pregnant pause. He's figuring it out. Or just getting it through his skull. I know that it's hard to convince people of things that they just don't want to believe.
Anyway, the good news is that with one copy of the bad allele his Lp(a) is "only" 75, a bit more than twice normal. It's most likely, then, that my kids are at about the same level, which should afford them some time for the antisense drug being developed to tortoise its way through the FDA and then the inevitable insurance roadblocks before permanent damage is done. That's good news. Fingers crossed.
Now there are two main alleles that seem to control Lp(a), at least in Caucasians. We know that I have two copies of one of the bad ones, the one that also greatly increases a person's odds of acquiring aortic valve stenosis. We also know that my father has ONE copy of that same allele (he had the same genetic tests done that I did).
By extension, we also know that my kids ALL have at least ONE copy of that same bad allele, as it's the only one I could have given them.
My oldest has a Caucasian mother whose Lp(a) and genetic makeup are unknown to us; from what I have read it would seem that she has a roughly 10% chance of having one copy of the bad allele, and if she does then there is a 50% chance our son has two. That's about a 5% chance altogether.
My other three children have an Indian mother, whose parents immigrated here. This is where it gets "interesting". On the one hand, it would seem that the particular bad allele (or genetic "spelling error") I am afflicted with is not nearly as common in the Indian population, if it exists at all -- that's good news. BUT, Indians do tend towards high Lp(a), which is bad news. There is probably another allele in their population that tends to raise Lp(a); we know if like 50 or so that control it in part, but again there are two that control it far more than any of the others in the Caucasian population.
So the upshot -- my father, who has one copy of the bad allele, has an Lp(a) of 75.
That's just barely enough to place him in the "high risk" category. His doctor, of course, told him that it was high but not to worry about it because he was on a statin. HE had the opinion that *I* didn't need to worry about it either, because he was just as bad as I was and HE didn't need to worry. I rubbed my temples and explained once again that 75 or above was "high risk", 125 or above was "very high risk", and my score was a cartoonish "X-man" level of 390. He countered that there were different units of measurement and our tests must be different, and I asked him if his used nmol/L or mg/dl. He didn't know but he knew that the doc told him a 30 or so was normal. OK, I told him, that's nmol/L, and that's the scale they used for me. There was a pregnant pause (we were on the phone) as I think some things finally started to dawn on him.
"You're 390?" he asked.
"Yes. And I've already got calcific degenerative aortic valve stenosis, and coronary artery disease typical of a 70 year old guy, at the age of 43. My body is an atherosclerosis machine."
Another pregnant pause. He's figuring it out. Or just getting it through his skull. I know that it's hard to convince people of things that they just don't want to believe.
Anyway, the good news is that with one copy of the bad allele his Lp(a) is "only" 75, a bit more than twice normal. It's most likely, then, that my kids are at about the same level, which should afford them some time for the antisense drug being developed to tortoise its way through the FDA and then the inevitable insurance roadblocks before permanent damage is done. That's good news. Fingers crossed.
