Single Mutation Across Generations

 

The theoretical cause of my liver tumors could be the following...

Single mutation of APOA5 gene which is associated with metabolic syndrome and high triglycerides (which I have had several times in the past).

And recent analysis showing that, beyond birth control pills, a risk factor for hepatic adenomatosis is metabolic syndrome and prednisone.

Which with PCOS and hyperaldosteronism and fifteen years of high dose steroids for asthma and now this mutation, I definitely meet that criteria.

But this is theoretical. There will be no studies. The biochemistry lines up, but we'll likely never have hard proof.

I suspect (and for some things we know) the teen has the same hormonal and genetic soup. As a result, she will have to keep an eye out for any liver tumor symptoms. I will say that medications like Ozempic may very well end up being preventative, but of course we are the experiment with that. There won't be any large scale studies. We'll just have to see for ourselves. 

So yes, unfortunately, my kid will need to watch out for liver adenomas and hyperaldosteronism. We got that much out of the genetics testing. (I am hoping the prednisone was my tipping point and that since she doesn't have to take it, that she'll avoid all the tumor stuff.)

If she decides to have kids, she will need testing prior to conception because mutations of APOA5 inherited from the father and mother can result in a child with serious disease.

So I guess I did find some answers. I didn't think they would be this obscure or so outside the lines. But isn't that always how it goes for me? Why am I surprised? When am I going to NOT be surprised? I should work on that...