Wednesday, October 13, 2010

Hughes Syndrome

The search for an explanation of my losses and other pregnancy problems has always led to two theories: 1) a blood clotting disorder or 2) a genetic issue. The genetics theory is discussed here.

Since my recent visit with the perinatologist, I've been wondering more about the clotting theory. As I posted previously, there are some clues that this might be the case but my lab test results don't fit neatly into the diagnostic criteria. To get an official diagnosis one has to exhibit certain symptoms AND have conclusive positive lab tests. Here are the symptoms of the clotting disorder Hughes Syndrome (a.k.a. antiphospholipid antibody syndrome) and whether I have them:
Blood Clots that cause "young" stroke or heart attack (under age 45), pulmonary embolism (clot in lung), or deep vein thrombosis (usually in the leg).

I've had none of these (yay!). There's no family history of this either. The only clot problem I've ever had was a *blush* debilitating thrombosed hemorrhoid following my first child's birth. According to my doctors, this clot does not count. I can tell you, though, that the indignity of stirrups is nothing compared to the humiliation of butt surgery done under only local anesthesia.  Moving on . . .

Pregnancy problems -
Intra-uterine growth resriction (IUGR) - Yes, my first child had this
Placental abruption - Partial abruption was suspected during labor with my second child, but it was never confirmed
Miscarriage, particularly in mid-pregnancy - A big YES on that one
Pre-eclampsia - No
Infertility - yes

Memory loss - My memory has not been great in recent years, but it's improved since this. I've always attributed it to trauma, inadequate sleep, anxiety, and all the drugs I've been on. My kids never let me forget that I'm "not a good rememberer"!

Headaches, especially migraines - I've never been one to get a lot of bad headaches but lately I've noticed subtle headaches practically every day. They rarely interfere with my normal activities. I suspect (and hope!) they're caused by stress, anxiety, etc and not by tiny blood clots in my brain!

Cold skin - I seem to have poor circulation in my hands and feet compared with most people. I've noticed my feet sometimes turn purple (but aren't uncomfortable) when I stand in one position for 15 minutes or so. Also my hands are like ice all winter even if I'm indoors all day. I noticed this long before I ever tried having babies, but I never thought for a moment that having icy hands could be a harbinger of doom!

Purple-blue discoloration of the skin, particularly around the knees and elbows - I've noticed this around my knees sometimes after showering.

Shortly after my losses I mentioned these supposed signs to my doctor and he dismissed them as "grasping at straws". As a result, I haven't brought it up again with subsequent doctors, but maybe there is something significant here after all.

Other than the pregnancy issues, most of the symptoms I have could easily be dismissed as subtle or subjective. I mean, everyone gets headaches. Everyone forgets things. Everyone gets cold, especially here in Minnesota! How do you know when you're outside the normal zone?

If thrombophilia (too much clotting) IS my problem, then there may be hope for me assuming I can ever actually get pregnant. According to several studies, Hughes Syndrome patients' odds of successful pregnancy are about 20% without treatment.  My success rate thus far is 40% - lucky me!  With aspirin and heparin treatment it goes up to about 80%. I'd love to give heparin a shot! Now if I could just get pregnant . . .


Jeanne said...


I'm really sorry that it's so frustrating to try to figure out what's happening. I don't pretend to know anything about the issues you've mentioned but something popped into my head when I was reading your post. So, I'm just going to throw it out there.

It was years ago that I read this book:

Tori Amos: Piece by Piece by Tori Amos and Ann Powers

Anyway, they had difficulty figuring out what was happening with her and I believe that there was something about blood clotting mentioned (not Hughes). I remember they talked about certain proteins being off somehow but I think they also mentioned clotting.

If you go on Amazon and search for her book, you can do a search in the book on keywords. I would start by searching "protein" and see if anything comes up related to blood clotting.

Who knows? Maybe there is some clue in there. One would assume she'd have access to really good doctors and I know they had trouble figuring out what was happening in her case for awhile.

I know it's a long shot but I figured it couldn't hurt to mention it.


P.S. I know many women who have both endometriosis and Reynaud's. (I am one of them). The cold hands and feet could possibly be that (Reynaud's).

Lori said...

Oh my gosh...when I read your posts, I see SO MANY of the things my sister has gone through and then...I think, "Wait...I have that. I have that. I have that. I have that." It's pretty scary and while everyone tells me all the time (in reference to any worries I have about Luke) --"But you don't need to worry about that because THAT wasn't Matthew's issue."

And then I think, "But yeah--what if MATTHEW being healthy and normal and making it to birth and beyond was the REAL FLUKE? I know the vasa previa was truly a struck-by-lightning-twice-kind-of-fluke, but what if the otherwise normal pregnancy was a fluke too????????"

I read those symptoms and seriously, so many things popped out. I have even been told by doctors that I am at risk for stroke at a young age because of my blood pressure being SO low. My mother AND grandmother had DVT and had to wear those hose ALL THE TIME. You know all my sister's stuff (though the doctors do attribute her cold hands and feet to Reynaud's Syndrome also, but *I* have it and have always been told that I just must have poor circulation."

Not to mention last year, I had THREE uncles (all brothers) die within 7 months of each other due to aneurysms of some sort.

Not to mention that I bruise ALL THE TIME and for NO REASON--and have just been told that just may be me.

I'm sorry--I'm just typing as I think and certainly don't mean to make your post about me! I am really, really, really glad you posted this info though and am going to look more into stuff with my peri. I don't have some of the pregnancy issues (though technically Matthew fit definitions of IUGR before birth but they said it was because *I* was small) except HEAVY in the infertility and endometriosis...but maybe one doesn't have to have them all?