Familial Thrombocytopenia

I wrote Tim's uncle regarding Familial Thrombocytopenia asking what he knew about it (he's a hematology prof at Western Carolina). I thought you all might be interested to hear the reply, so I'm posting it:

"George Fritsma has always wanted me to write an article on Donna (grandma) and Deb (aunt), but I didn't. I think he might be interested in doing one on all three. It is commonly known that autoimmune diseases run in families and often exacerbate themselves in more than one kind of autoimmunity (RA, Lupus, ITP). I don't think there has ever been a study where two or more generations had adult onset ITP. Our family may be the first and needs to be studied while Donna is still alive to participate. We really needed to do it before mom and dad passed to get the whole story. we will see what happens with your grandchildren and Deb's."

I'm going to request genetic studies on Tim at least. An article I read says that there are some chromosomal breakage and antiplatelet antibodies in these cases. Tim's uncle has written to George Fritsma to see if he is interested in a study (just found that out now!). I think studying three chronic ITP subjects in the same family could be very useful. This is his website: www.fritsmafactor.com . Anyone can become a member, you don't have to be a medical professional. He is considered an expert on ITP and other blood disorders.

That would be so great if someone started doing some research on autoimmune diseases that run in families! How great that someone may be willing to look into your family genetics. I often wonder with my MS, my daughter's thyroid disease (Hashimoto's), and my son's ITP why no one has clued in to the genetic side. We will continue to keep an eye on Camden's high ANA titer and be thankful for no lupus as of yet
p.s. Happy Mom's day
LaMonica
Mom to Camden -9yrs (dx 6/09)

That would be so great if someone started doing some research on autoimmune diseases that run in families! How great that someone may be willing to look into your family genetics. I often wonder with my MS, my daughter's thyroid disease (Hashimoto's), and my son's ITP why no one has clued in to the genetic side. We will continue to keep an eye on Camden's high ANA titer and be thankful for no lupus as of yet
p.s. Happy Mom's day
LaMonica
Mom to Camden -9yrs (dx 6/09)

If you check the link here in the site, there is contact information for Dr Geddes from the University of California who is doing some studies. www.pdsa.org/about-itp/and-families.html

Lamonica,

How interesting. I have hoshimoto's, my son has MS,and of course Tim has ITP. His dad's family's also had Lupus in more than one relative and Tim's dad also acquired type one (insulin dependent) diabetes at age 29.

Thanks for the link Bunnie-I did send a message to see if our stuff fits the parameters of her study.

Now that I think about it, they University of WA has been studying Camden's blood since birth (once a year-send in kit) as he has a genetic marker for juvenile diabetes. He is a tall/thin/athletic kid-and thankfully still diabetic free. I think the study is called DEW-IT ?? How are you doing with your Hashimoto's? My daughter tried one med and had a terrible reaction, so they agreed she could go med free until her symptoms get unmanagable or her thyroid burns itself out. No lupus in the family...I guess the only known autoimmune issue would be my dad's psoriasis. These bodies are complicated!

Lamonica,
My thyroid burn out at age 16, so I just take synthroid every day. My thyroid doesn't really bother me unless I run out of meds (I feel it within a few days) or if I need to adjust the med. It seems that recently the dose I've had all my life is too much. I've had tremors, heart palpitations and arrhythmias and have been irritable. So, I take half the dose prescribed and I feel much better. My mother also had it, and my daughter as well.

Donna, it's good to know that the Hashimoto's is well controlled with meds!

Bunnie, I did get a response from Dr Geddes:

hi mrs. mergel thank you for your contact. our lab is focused on inherited defects in megakaryocytes themselves that lead to thrombocytopenia, not disorders primarily affecting the immune system. you might contact Dr. Drew Provan through the UK ITP registry, as they are doing work on inherited autoimmunity.best regards,amy geddis


LaMonica
mom to Camden (9yrs) dx 6/09

LOL.. that's what I suggested in the first place.

I started thinking about this and we have a family thing going on as well. I have Hashimotos, and then there's Jordan's ITP. I have an aunt and grandmother with rheumatoid arthritis (that same aunt has Sjodregens syndrome not sure of spelling). My husband has a first cousin who got ITP as a 3 year old but it went away on its own within a year. His mom seems to think it came on after a bad flu he had.

Karen
mom to Jordan

The propensity to develop autoimmune disorders is definitely handed down in the genes but to have one particular disorder like thrombocytopenia run in families is something different.

The only auto-immune problem that I can point to with any certainty in Dougie's family is that my mother-in-law has a thyroid problem which started when she was in her mid-50s.

However, prompted by this post I rang my mum tonight to ask her about whether she was aware of anything auto-immune in her family and learnt something which is probably irrelevant but new to me - 40 years ago my grandad had 3-4 years of what the doctors thought was MS and then he went into a remission that lasted the rest of his life. I had no idea about this, although when I think about it, I remember him being ill when I was very young and having to give up farming

Other things definitely run in our family though - heart disease in my mum's family and lung disease in my dad's. That's the bad news.......the good news is that family members who escape this lot seem to last well into their 90s


Ali

Hmmm - maybe us "parents" are on to something. Danica's dad has MS and she has ITP. I am still uncertain about her thyroid. She had some low results, but also had normal ones. Her doctor figures that it is probably due to her age (pre-puberty).

It is interesting regarding this autoimmune stuff isn't it?

Michelle

Hmm, I seem to have stumbled across an interesting thread.
First off, if this helps any of you, I have a form of familial ITP.
I would also like to ask how rare this is, since I could not find ANY statistics on the internet? All the websites said it's rare, were unsure about whether or not it existed, or denied the existance of it altogether.

Have you been tested? Which type of familial ITP do you have?