ITP to Clots and any Genetic Connection?

I was diagnosed with ITP at the age of about 13 and was able to maintain normal levels of platelets on medication for approximately 7 years. At that time I decided to go off of the medication to see if the levels stabilized and with testing showed that numbers were great! Now approximately 6 years later I was just diagnosed with a pulmonary embolism but platelet counts are completely normal. Could the two be related? I have also had raynaud's phenomenon for as long as I can remember.

Additionally I have been collecting family medical history and just recently discovered that my Grandmother, who passed away in the 60's may have had genetic issues but died of complications of surgery with some issue around her heart. My father was 6 at the time and only has some letters she sent to family when she was going through treatments discussing skin biopsies and blood testing, but no family alive to know more about what happened. I am not sure if what she went through could be linked to what I have.

I know that there are several genetic links that can cause the ITP and clots, but I am currently on Coumadin and any testing they have done so far is unknown due to the interference that the coumadin can have on the tests. All of these tests came back positive, but none were positive when ITP was originally diagnosed, but I have always had a low white blood cell count.

I am not sure if anyone has any idea what could be going on. I do have appointments with specialists being scheduled but I want to go in with as much information and knowledge as possible.

Hello. What medication were you on for seven years? Wow.

There is a clotting disorder called APS (Antiphospholipid Syndrome) that can sometimes go along with ITP. Blood thinners should not affect the result of the test; there are three antibodies that should be tested. These antibodies can be elevated off and on throughout one's lifetime.

Physicians use a combination of clinical symptoms and laboratory tests to diagnose APS. The common blood tests for antiphospholipid antibodies are as follows:

Anticardiolipin antibodies (IgG, IgM, and IgA)
Lupus anticoagulant – a panel of blood clotting tests that may include the dilute Russel Viper venom time (dRVVT), lupus aPTT, mixing studies, and hex phase phospholipid test, platelet neutralization procedure
Antibodies to b2-glycoprotein I (IgG, IgM, IgA)

www.apsfa.org/aps.htm#6

Hi Sandi, Thank you for the information. I will look into this testing. For the medication, I was started immediately on Prednisone (sp?) which I believe is normal care, I believe my count
Was around 9 or so but soon after once things were stabilizing above 15, I was started on Hydroxycloroquine, they stated that the medication has had some interesting impacts on on people with Lupus with it reducing some symptoms and thought it would be good to try seeing as they did not know what was the cause of my low platelet count.

Really? Your doctor kept refilling Plaquenil for seven years even after your counts were good? Do you have Lupus? I have never seen anyone with ITP treated with Plaquenil if they didn't have Lupus, even though some literature states that it can improve coounts. Very strange. Plaquenil can however, protect from blood clots. The article below discusses Lupus patients, but is really referring to those who have Antiphospholipid Antibodies.

Many study reports have suggested that people with lupus have an increased risk for blood clots, but the degree of this increased risk has varied widely across studies. In addition, previous studies have found that anti-malarial drugs such as hydroxychloroquine (Plaquenil) may decrease the risk for blood clots, but the patients in these studies might have had different amounts of these treatments, or had differing severity of lupus for differing amounts of time. This could have led to confusion about whether it was the Plaquenil protecting these patients or some other factors.

www.lupus.org/research-news/entry/anti-malarial-drugs-decrease-risk-of-blood-clots-in-people-with-lupus

circ.ahajournals.org/content/96/12/4380.full

The diagnosis was always ITP. I may be a little shakey on the details because I was pretty young but the doctors did mention the potential for Lupus due to a slightly lowered white blood count but none of the other tests or symptoms were positive. With the recent clot they have done several tests and now have come back positive or higher then expected. The Lupus test they were running did come back positive but that test can be interfered by the Coumadin I'm currently on. The others to my understanding would need a second positive to confirm a diagnosis. I am still in the waiting period for I think the recommended 12 week between tests for the next round of testing. For staying on the Plaquinel, my doctor had seen extremely positive results using the medication with limited side effects and gave me the option whether or not I wanted to stay on the medication. She stated that I could go off and I would have to monitor the counts and see if my body had any relaps to going off of the medication or stay on. I opted to stay on it until I was done playing contact sports which was in college.

Okay, I'm pretty sure the tests they ran on you are the ones I was talking about. Antiphospholipid Syndrome (APS) usually requires a second elevated result 6 to 12 weeks after the first.

Do you know what Lupus test they ran? Was it the ANA?

One of the tests for APS is called the Lupus Anticoagulant, but it doesn't have anything to do with Lupus itself.