MDS and autoimmune disease

[Jill2008]

I have read that MDS can be brought on by an autoimmune attack. When I was first diagnosed with MDS I was having headaches, mild upper left chest pain, chest tightness, shortness of breath, dry cough, sternal and cervical discomfort, and gastrintestinal symtoms. My hemotologist ordered antibody testing and found nothing. She was unsure of the cause and said it could be related to anxiety. Due to my age and the fact that one of my cousins was diagnosed with RA, and another suspects she has Lupus, I think the testing should be redone. Does anyone out there have MDS secondary to autoimmune disease?

[Jill2008]

I attended a webinar put on by the Aplastic Anemia and MDS International Foundation "MDS: Whot Gets It and How is it Diagnosed" and turns out I fall into a very small category of autoimmune driven MDS.

• female
• < 55 years old
• hypocellular marrow
• other signs of autoimmune disease (for me Raynauds) + family history

I have suspected this for a long time and can't wait to share this information with my doctor. I had all kinds of testing done for autoimmune and nothing showed up, but I just can't help feeling that something is being missed. Just hope I'm on the right track because ATG and cycolsporine could help my counts. Hope this information can be helpful to others.
Jill

[squirrellypoo]

Huh. I've never heard about this before, but I also tick the same boxes as you (only I didn't have Raynaud's, my paternal grandfather died very young from it). Do you have a link for where you found this information?

[Jill2008]

The webinar will be archived soon so that you can listen to it. There is a segment at the end of the presentation where you can type in questions and the doctor will answer them. I explained my situation to Dr. Steensma and he provided this information. If you haven't attended one of these webinars, I highly reccomend it. Go to aamds.org and click on the online learning center box and view archived webinars. I am also having the Aplastic Anemia and MDS International Foundation contact me with where I can find more information on this. I will let you know if I find anything out.
Also, in "100 Questions and Answers About Myelodysplastic Syndromes" it states "The bone marrow of hypocellular MDS can appear similar to and be confused with idopathic aplastic anemia, in which marrow blood cells are destroyed by a person's own immune system, resulting in very low blood counts."
This is a great book if you don't already have it.
Jill

[tytd]

Hello Jill,
From what I have read, a small percentage of patients with MDS may respond to immunosuppressant therapy with ATG and cyclosporine. Apparently you have more of a chance of responding to this therapy if you are young, (less than 60y.o.), have a hypocellular marrow, normal cytogenetics, low risk disease, evidence of a PNH clone and HLA-DR15 histocompatibility type. Do you know if you are positive for HLA-DR15? Certainly something to consider before transplant. Good luck. tytd

[Hopeful]

Although I've heard that testing positive for HLA-DR15 increases the probability of responding to ATG, it is not definitive.

I tested negative for HLA-DR15 but still responded to ATG.

Good Luck!

[Chirley]

I've often thought my bone marrow problem was autoimmune but my haematologist says that he has discounted it.

My brother has Lupus and I vary between having a positive and negative ANA. I was thinking of asking to be referred to an Immunologist just for another opinion. I also am under 60 with a hypocellular bone marrow.

At the moment my treatment consists of transfusions only and I would love to have some treatment aimed at cure rather than maintainance.

This sounds hopeful.

Chirley

[Deanna16]

the thing with autoimmune diseases like RA and Lupus is that there really is no "test" that says that you have it or not, it's more of a process of exclusion and about 80% of the diagnosis is based on the symptoms the patient share with the Dr. Sometime you can have symptoms that you don't even know are symptoms and therefore don't share that information

[Jill2008]

I don't have normal cytogenics, so maybe this is why my doctor doesn't believe this is autoimmune related. It's just weird that all these symptoms started up when my platelet count began dropping again. I told my husband I feel like my body is under attack. I may be grasping at straws, but I am determined to find a reason why I developed MDS so young.
Thanks for the response. I wish you all the best too! I have been scheduled to begin pre-transplant testing twice now and then my counts stabilized and the transplant was put on hold. Luckily I have five unrelated matches when the time does come.

[LynnI]

I knew for most of my life that my immune system was out of wack. Many years ago after the birth of our son, we tried to have another child. Each pregancy ended in miscarriage, each pregancy was shorter in duration. I was RH Negative and the specialist that I saw said that my immune system was attacking each time I got pregnant and each time it became better at detecting the pregnacies.
So between that and being exposed to Toluene are the reasons I have MDS in my opinion.

[Jill2008]

Lynn,
I am also Rh negative and after the birth of my first daughter, I was given a injection to prevent my antibodies to Rh factor from destroying the baby's blood cells during subsequent pregnancies. Were you given anything? I am sorry to hear what you went though.
I suspect that my immune system has been out of wack for a long time too. I faxed a letter to my transplant doctor regarding the characteristics of autoimmune driven MDS. Hoping to hear a response soon. I woke to a burst blood vessel near my collarbone this morning and I don't remember doing anything to cause it. I fear my platelets have dropped into the teens...off to the lab for another CBC.
Jill

[LynnI]

Hi Jill,
Yes, I recieved the shot at 28 weeks and again after my son was born. After the first pregnancy, the rest never made it that far to recieve the shot and each pregnacy was shorter in duration as my body became better at detecting it.
Hope you get good news.
Thanks,
Lynn

[Deanna16]

Originally Posted by Jill2008

Also, in "100 Questions and Answers About Myelodysplastic Syndromes" it states "The bone marrow of hypocellular MDS can appear similar to and be confused with idopathic aplastic anemia, in which marrow blood cells are destroyed by a person's own immune system, resulting in very low blood counts."

Jill, the quote you mention above...I thought folks with MDS have blast cells...would the presence of blast cell make it distinguishable from Idiopathic AA?

[Jill2008]

Originally Posted by Deanna16

Jill, the quote you mention above...I thought folks with MDS have blast cells...would the presence of blast cell make it distinguishable from Idiopathic AA?

Not always..some MDS patients have fewer than 5% blasts. An increase in blasts means progression towards AML (20% blasts).

From 100 Questions and Answers About Myelodysplastic Syndrome
MDS is best classified as a syndrome of similarly related diseases of bone marrow failure in which the common clinical feature is low blood counts (especially anemia) and the common pathologic feature is dysplasia of one or more blood cell types. In my case, I also have multiple chromosome abnormalities, but not all MDS patients do. Yesterday I found out I also now have Monosomy 7, frequently found in MDS.
Jill

[Deanna16]

ok, so those who have MDS with less than 5% blasts, MDS might not be able to be detected and therefore may only be diagnosed with AA... wow

and the only way to test for MDS is through BMB, right?

[Birgitta-A]

Hi Deanne,
You know there are many types of MDS. Here are some figures that I got from a material of 1000 MDS patients in Germany:
Refractory anemia (RA or RARS) 15%
Refractory cytopenia with multilineage dysplasia 50%
RAEB-1 (<10% marrow blasts) 15%
RAEB-2 (10-19% marrow blasts) 15%
MDS associated with isolated del5q 5%

As you can see about 30% of these 1000 MDS patients had more than 5% blast cells in bone marrow. It is true that BMB is very important for MDS dx.
Kind regards
Birgitta-A