Hello readers! Those of you who have been diagnosed with PAI-1 deficiency may know that this is a genetic bleeding disorder, which means it is heritable, that we can pass it down to our children. But do you know that very few labs do the genetic test for PAI-1 deficiency? Several labs seem to have the test for the opposite disorder - a genetic tendency to have too much PAI-1 - but few seem to have our particular disorder set up to test. I'm hoping the more visible we make this disorder, the more labs and genetic testing kits will include it.
I recently used 23andme to do a genetic test, and though it's still crude and broad - without a very large database, statistically, yet - it was a fascinating glimpse into all things genetic. You can see traits - from hair color to bitterness tasting - as well as genes you're a carrier for - for me, it was fructose intolerance! You can see disease risks (still sketchy, but better than nothing) as well as genes for breast cancer, Parkinson's, and Alheimers. But very little in the whole test - which studies hundreds of genetic conditions - for those with bleeding disorders. I suggest we write in to ask that they start including it as a standard test in their reasonably-priced kit (right now on special for $99.) There does not appear to be an easy way to contact them, but I did find this form:
https://customercare.23andme.com/anonymous_requests/new?reference=contact_faq
For those with life-threatening bleeding disorders, knowing whether or not you might pass down your condition to your children is an important factor in deciding whether to have children, and we shouldn't have to demand expensive (or even, sadly, often non-existent) genetic counseling to find out.
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I posted a message to 23andMe, got a reply saying they weren't interested at this time.
ReplyDeleteI'd very much like for my husband to be tested for PAI-1 Deficiency. He's had a lifelong delayed bleeding disorder that has also been life-threatening. He was tested by a hematologist in June and diagnosed with "secondary erythrocytosis", which was probably a valid diagnosis but didn't go far enough. Three weeks before the test we'd moved to 1000 altitude after 10 years at almost 7000 feet. One of the causes of "secondary erythro*" is living for a long time at high altitudes.
We have an appointment Friday for a second opinion, and I'm going to ask that he be tested for PAI-1 Def.
I have two questions:
1- How likely will a routine blood test come up with a diagnosis? In 1993, when he came very close to dying - the doctor said he turned a blue "indicative of death" - from delayed bleeding, every test at an Emory hospital came up negative. They didn't know what was wrong. Would we be better off at Emory instead of a suburban hematologist?a
2- In the last six months he's had three platelet transfusions before minor surgery, and they stopped the delayed bleeding. Would a platelet transfusion work with PAI-1, or is the problem really in the platelets?
I'd appreciate any advice/direction, etc.
Thanks. Donna Warner, a.k.a. Thirties Child at 23andMe. Husband is Shikar.
my kids have PAI-1 def. according to HDCH our childrens hosp. but Indiana htc doesn't believe they have it cuz we are NOT amish and it has only been seen in the amish comm. U of Michigan is the only testing site in the U.S our dr didn't even send it there. My daughters level was 11% and son's was under 3% undetectiable. good luck wish I could find someone with PAI-1 weve looked everywhere......
DeleteThanks for putting together this blog. There is very little information on PAI-1 deficiency. Most doctors have no clue as to what I'm referring to. My daughter was diagnosed 3 years ago. She is currently taking Lysteda (tranexamic acid) for an injury that caused bleeding under her skin. Would love to hear if anyone out there with PAI-1 deficiency has any other auto-immune, musculosketal issues or other genetic conditions like Mosiac Turners syndrome?
ReplyDeleteThanks in advance,
MC
My son was recently diagonsed with PAI-1 defeciency. He had a spontaneous bleed in his right calf, directly on the muscle. For 2 weeks he received Humate P infusions and was sent home with a Picc line and was on 30 days worth of Humate P. At birth he was circumcised and bled out, we were told he had Von Willebrands Disease, but after the determination of his current Hematology team, they recently found that diagnosis was incorrect. He recently twisted his ankle and is taking Amicar. His doctors say he is the only case they have and have ever seen, they consulted with UCLA and CHLA and told us treatment is minimal and almost non-existent. It was explained to us that he clots, but breaks the clots down too fast. This is so new and scary to us. I'm looking for any new information or treatment and advice. He's 16 and his whole lifestyle has changed over night. Its been really hard, both physically and emotionally.
ReplyDeleteThanks, NB in Californi
my kids have PAI-1 age 13 and 10. my son has had 2 injuries causing hip bleeds. daughter has only had trouble with dental and nasal bleeding.
DeleteWe emailed before about my DD, who was diagnosed with PAI-1 Deficiency, only to have drs change their minds and decide maybe not. I read with interest about testing unreliability and I'm wondering if I should push for another. Also, I had some further questions. I've followed you on Twitter; if you'll follow me, I'll send you my email addy privately.
ReplyDeleteDear Commenters, sorry I've been away from the blog. I've had some other health issues crop up that took my attention. I'd like to help all of you as much as I can, so please e-mail me at Jeannine dot gailey at live dot com with urgent questions. Remember I'm not a doctor, I'm just sharing what I've been told. (Sorry I had to comment as another ID, google/blogger is acting up! But it is Jeannine.)
ReplyDeleteIn reverse order:
--Cynthia, please e-mail me, but yes, it won't hurt to get another test done, just make sure it's at a reliable big university lab.
--NB, I am so sorry to hear about your son. How frightening. Please e-mail me and I'll tell you what I know that might help.
--MC, I only have anecdotal evidence from talking to other folks with PAI-1 deficiency, but yes, a lot of us have autoimmune troubles too. There aren't enough of us to really get good statistical data, unfortunately.
-Donna, you should definitely go to a big city university hematologist, rather than a neighborhood hematologist - they are more likely to have seen a (very rare) PAI-1 deficient patient before. Yes, plasma transfusions, I've heard, can be helpful (more helpful than blood transfusions, apparently because our PAI-1 deficiency is in the plasma rather than the blood.)
yes plasma is more helpful my son has had 2 bleeds in the hip first was big and after 3 bags of FFP'S was walking next day, second bleed was smaller and the just gave him amicar it took a week to get back to normal. but another HTC just told me that giving FFP;s has a higher risk of contracting hep C so..... not sure what we will do next time.
DeleteI wonder if you knew what snps from your 23&me test are associated with it. We could figure it out - by comparing a few. I'm curious b/c my ancestry is from the same time/area (Switzerland -> Indiana) & health history.
ReplyDeleteThanks, Sarah
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