inherited thrombocytopenia

is there anyone out there that has inherited thrombocytopnia? i have it. every doctor i have see tells me i am unique! don't want to be unique. i have tried prednisone, rituxin infusions, n-plate injections and winrhoe. nothing works. i am now on no medication my platelets are hovering at about 19k. i refuse to have my spleen removed!! help sak

You should continue to refuse to have your spleen removed because that is a treatment for ITP and you don't have ITP so it won't work. It's no wonder also that none of the ITP treatments have worked. It's also a wonder that they keep on trying them.

Some of the children here are thought to have a familial thrombocytopenia. Have a look on the parents' board.

Which type do you have?

What type of ITP you have chronic or acute. When actually its been diagnosed?

swayamkedari wrote: What type of ITP you have chronic or acute. When actually its been diagnosed?

They don't have ITP at all, that's the point. They have a different sort of thrombocytopenia. Do you know something about it?

Keep your spleen!! A Splenectomy does not have enough of a success rate to have it. Once it is removed, there is no replacing it! A Splenectomy also puts you at a greater risk of contracting a serious or life threatning infection. How old are you (if you do not mind me asking), when were you diagnosed?

YES I have a different kind of thrombocytopenia. It is inherited my grandmother, my mother, my self and my daughter. My brother and his son also have it. As i said the doctors have tried everything, nothing works and i refuse to have my spleen removed. In the latest news letter they mention inherited thrombocytopenia. i just wanted to know if anyone out there has this?

There is no owners manual for any health condition. What may be true for 1,000 people with the same issue may not be for the 1,001 person. Everyone of us are unique. How did your relatives treat if any?

My mother's platelets have always been border line (over 100,000) so her doctor just kept an eye on them and tested her every 6 months. My brother and daughter's run 90,000-70,000. They get tested every 6 months, they are not being treated at this point. I am the only one in the family with platelets below 30,000.


I want to thank you all for showing interest in my problem. It is always nice to know there are others out there who care!!!

Here is an article Sandi posted a while ago. Did you know you can search the forum? Look at the search button across the top of the screen. Search on 'inherited'. Erica


The diagnosis of immune thrombocytopenia (ITP) may sometimes conceal more rare cases of inherited disorders of the platelet function, particularly in patients found to be resistant to steroids or splenectomy. On the whole, these last include a crowded list of dysfunctions, involving platelet surface constituents or intracellular components.2 Because two Tpo receptor agonists, eltrombopag and romiplostin, have been approved for chronic ITP adult patients unresponsive to glucocorticoids, intravenous immunoglobulin, or splenectomy,3 their potential use also in inherited thrombocytopenia is attractive.

Léon et al report the effects of romiplostim in the mouse model of inherited platelet dysfunction because of mutation of the myosin 9 gene (MYH9).1 So far, at least 45 mutations of MYH9 have been described, accounting for an ensemble of autosomal-dominant inherited diseases, grouped as MYH9-related diseases (MYH9-RD), all characterized by the presence of thrombocytopenia with giant platelets and Döhle body–like inclusions within leukocytes.4,5 These three alterations, also known as May-Hegglin anomaly, can variably associate with other phenotypic peculiarities, including presenile cataract, proteinuric nephropathy, and progressive sensorineural hearing loss.4,5 Depending on the entity, the bleeding tendency is extremely variable, ranging from asymptomatic individuals to patients experiencing severe hemorrhages: in the latter, however, no therapy other than platelet transfusion is so far available.

We have recently reported that patients with thrombocytosis because of the inherited MPLSer505Asn activating mutation have not only a significant risk of thrombosis, but also evolve to bone marrow fibrosis. In these patients there is an unequivocal association between fibrosis and aging, with progressive increase of reticulin fibers, which in some middle-age and in most elderly patients appears diffuse and surrounded by focal bundles of collagen.9 The problem of marrow fibrosis in ITP patients undergoing Tpo mimetic therapy is truly felt, so that monitoring of cell counts and the peripheral blood smear is recommended. If new morphologic abnormalities or cytopenias are noted or if there is a loss of response to treatment, a bone marrow biopsy with staining for reticulin and collagen should be performed.

A recent Italian trial has first reported that patients with MYH9 mutations significantly benefit from 6-week eltrombopag treatment, with increase of platelet count and disappearance of bleeding tendency in most of them.11 Whereas the experiences gathered so far in ITP patients indicate that Tpo-mimetic-induced fibrosis is reversible if drug therapy is discontinued, the irreversibility of marrow fibrosis associated with MPLSer505Asn mutation provides ground for reflection. In addition, data presented here by Léon and colleagues cast doubt that, under prolonged Tpo stimulation, patients with thrombocytopenia sustained by ineffective megakaryocytopoiesis would be predisposed to this complication.


bloodjournal.hematologylibrary.org/content/119/14/3194.full?ct

Yes, I have inherited ITP. I bleed out and my sister clots. I have tried prednisone, rituxin and a spleenectomy. My platelets used to go from 2,000 - 7,000. I have been on Promacta since it was discovered in 2008 with no side effects. I get funding from the manufacturer since it is expensive, $6,000 per month. For the last 6 months it has maintained my count 124k to 240K. I have been in the hospital twice for a high white blood cell count due to infections, but I make sure I keep antibiotics at home, against doctors wishes. I hope this helps. They discovered that I had ITP in 1994. sf

I found that I had bookmarked this article so I must have thought it was good and clear. It's entitled "Congenital and Acquired Thrombocytopenia".

asheducationbook.hematologylibrary.org/content/2004/1/390.full

sfhamden, I don't understand why any doctor would diagnose someone with inherited thrombocytopenia and then give them ITP treatments which are bound to fail, especially a splenectomy. I think maybe it's another good reason not to rush into a splenectomy for some, just in case later they realise that they don't actually have ITP.

You should never rush into a splenectomy unless that is the only way to stop the bleeding with low platelets. After years of trying some of their treatments, I gave in to the splenectomy which only worked for 3 - 4 months. I also tried natural remedies which also did not work. Everyone's body is different and the doctors are using all of their knowledge of this disease to help you since there is no cure. A lot of doctors do not believe this disease can be inherited, but they are wrong. I have gone through a lot with my ITP and I thank God I am still here. Good luck in your journey.

So you are actually diagnosed with ITP. That explains the treatments. Why do you think you have inherited thrombocytopenia?

My older sister has a high platelet count in the millions where she clots. This the opposite of my low platelets. She is in the last stages of the disease and she has had platelets removed through machines to bring her count down but it only lasted for a few days. She is now on cancer medication which is used during the later stages when all else fails.

That doesn't make it an inherited disorder. My sister and I have both had ITP but it is not considered an inherited type.

Ok.

These are the types of Inherited Thrombocytopenias:

www.pdsa.org/resources/other-platelet-disorders.html?layout=item

My mother has low platelets(just over 100,000) My brother and his son 70,000, my daughter 70,000 and myself 20,000. I have spent a lot of time the past week on the computer and spoke with a lot of people about this. The last newsletter had a lot of good info. I am now applying to the London ITP registry and the Italian ITP registry they are both doing studies of adult familial ITP. Maybe me and my family will become guinea pigs!!

I read about it (CTI)and you are right. I have chronic thrombocytopenia.

Thank you! the more info i can dig up the better. None of the six different hematologist i have been to will help me so i am going to have to help myself.