Sunday, July 15, 2007

Preeclampsia and Alpha-1 Antitrypsin Deficiency

About 3 years ago on a lark, I looked up the location of the Alpha-1 Antitrypsin Deficiency gene on the human genome web site. To my surprise, I had an "aha" moment when I noticed that a different gene for hypertension (that I have) was startlingly close to the Alpha-1 Antitrypsin Deficiency gene on the distal long arm of chromosome 14.

I've always wondered about this:

* I have the M2Z genotype for Alpha-1 Antitrypsin Deficiency.
* Both of my children have ZZ Alpha-1, a severely deficient genotype.
* Plus the fact that I have a form of hypertension that responds to an ACE inhibitor.

Did these facts contribute to the development of my severe preeclampsia???

It seems someone else (a smarter medical research team than I am) has indeed wondered the same thing.

Today, someone found my blog by doing a google search of "A1AT preeclampsia." This piqued my interest so I also searched using the same key words, and well, I stumbled on an article that was published in the American Journal of Obstetrics and Gynecology.

I'm simply "dying" to read this article, but I'm too cheap to spend $30 on something about which I can't even read an abstract. This is all that I can find about the article:

Evidence for alpha-1-antitrypsin (A1AT) polymerization in preeclampsia: A novel mechanism for endothelial cell injury
Irina Buhimschi1, Guomao Zhao2, George Saade3 and Catalin S. Buhimschi2
1Yale University, Obstetrics/Gynecology, New Haven, Connecticut
2Yale University, Ob./Gyn.&Reprod.Sci, New Haven, Connecticut
3University of Texas Medical Branch at Galveston, Obstetrics & Gynecology, Galveston, Texas
483. Available online 4 December 2006.

I've got to get myself to the real library to find that article. Or, hey Mom, can you share it with me? Do you subscribe to AJOB? Let me know.

If this provides me with the answer for "why" I developed severe preeclampsia twice, my brain may finally allow me to progress to the stage of acceptance. I mean...a mom can only hope to ease the guilt of having two premature babies somehow.


~Denise~ said...

I hope you find a way to read the article Jen. And I hope it's one more thing that allows you to accept what happened just a tad bit more.

There are days when I think I've accepted PE and it's affect on my family, but then something slams it back in my face to say, Hey you're not over this yet.

Keep us posted!

Bob Campbell said...

You can buy the complete report for $4.95 at this link:

Thought this might help.
Bob Campbell
Communications Manager
Alpha-1 Foundation

Anonymous said...

My Alpha-1 problems started with Preeclampsia. I had this with my youngest daughter. They put me in to induce my labor and I woke up in ICU on a ventilator 3 days later after delivering my baby and after 3 sugeries. I had to have my uterus removed. My breathing problems started here. My gynecologist and his partner both took care of me and they shut down their entire practice for a day to take care of me. Thankfully they wrote my bill to them off and I didn't even have to pay them. After my Alpha-1 dianosis my gynecologist says that had to be the reason for my problems. He said he had never had such an experience and that he had asked around to many, many, other doc and only found one that had a similiar experience with a patient. That doctor and his patient were from Iceland. Everytime I go to this doctor we have this conversation about
Alpha-1 and Preeclampsia being related.
Just thought I'd share my experience.
Take Extra Good Care,

mark brenneman said...

I have read several of your postings {reviewing the subject in passing}, first hand observations always helps reaffirm the notion of motherhood and genetic variation [subsumed by myself as to the theory of natural selection], the possibilities are in your favor, the future is yours [with genetic counseling] and guarded unilateral optimism [not a peer reviewed opinion]. at 7/29/2007 04:45:00 PM

Anonymous said...


Wonderful insight. If you are still looking for a copy of that abstract, here is the summary:

Both serum and urine A1AT is significantly elevated in severe PE. Moreover, there is a polymerized form (ZA1AT) is observed in severe PE.

If you need more information, email me.

Kristavia Passero said...

I just found out I have m2z and my mom has m1z. What is the difference? I'm scared. What does this mean for me?

Anonymous said...

Lorena Guidry.
I live in New Orleans, and I am a M2Z my mother was a ZZ. But in New Orleans no one even knows what that means. I was tested by sending blood out to Florida. What does M2Z means? I am 69, my mother died at 87 1/2 and only found out about Alpha 1 at 86 1/2. Thanks and I hope you and your children will live long as I said my mom had no symptoms until 86 1/2years old. my email is, if you have any info or questions. 2473