AA with an autoimmune disease?

[Deanna16]

Does anyone on here have AA (or MDS, PNH, etc) with an autoimmune disease or other "underlying" condition that may have contributed to your AA? I know sometimes with lupus or rheumatoid arthritis AA can develop...my family has a VERY strong history of autoimmune disease but I don't seem to have anything else wrong with me except AA. BUT I suddenly get swollen or sore in my muscles and joints..

[Lisa V]

You mean a second autoimmune condition? AA is generally considered an autoimmune disease itself, which is why it is treated with immune suppressants.

[Hawaii Bill]

When I was first being evaluated for my low blood counts, it was discovered that I had Hashimoto's Thyroiditis, which is also an autoimmune condition, as I understand it. I don't know if there is any significance to it along with the AA, but getting my thyroid T3/T4 and TSH up to normal levels really helped me feel better, and my hematologist indicated that thyroid function contributes to red blood production.

I tend to think that somewhere along the line, something in my immune system got triggered, and not in a good way.

[David M]

I had a bout of acute Sarcoidosis back in 1996. It started in the early Spring of 1996 and was mostly gone by the end of the year. It was treated mainly with low dosage of prednisone. Sarcoidosis usually attacks the lungs, but it can attack practically any system in the body.

It initially started in my ankles and feet -- feet/ankles were swollen so big I couldn't get into my shoes. I also initially had a mild unproductive cough and a fever of about 102. The feet/ankle swelling went away quickly with an initial dose of steroids. The sarcoidosis progressed into a more severe cough and ongoing fever, which persisted over several months, along with general joint aches and pains. I remember at times coughing my head off, and having a fever of around 100 degrees F that would occur just about every day for a good while -- and just generally feeling "crummy." Finally it all just went away with no lingering effects.

The hematologists have considered the sarcoidosis to be an underlying cause of my blood problems, but they have no real evidence to make that conclusion. Sarcoidosis is kind of hard to diagnose. It seems sort of like you rule out every other possible thing, and then you are left with the diagnosis of sarcoidosis. Actually they did do a bronchoscopy on me back in 1996, but there was no evidence (even then) of sarcoidosis -- specifically no granulomas found.

Anyway, that's my autoimmune story... and I'm sticking to it!

[Deanna16]

Originally Posted by Lisa V

You mean a second autoimmune condition? AA is generally considered an autoimmune disease itself, which is why it is treated with immune suppressants.

Thank you all this has been very helpful! Please keep posting I'm interested to hear more stories. Lisa, my doctors refer to the AA being autoimmune as a theory -- so I meant a definite autoimmune disease, but it's helpful to know that your doctors consider it that.

[Hawaii Bill]

Originally Posted by Deanna16

Thank you all this has been very helpful! Please keep posting I'm interested to hear more stories. Lisa, my doctors refer to the AA being autoimmune as a theory -- so I meant a definite autoimmune disease, but it's helpful to know that your doctors consider it that.

I think that it is true that AA is considered autoimmune in theory but that treating it as such with immunosuppression has been successful in most cases, FWIW.

[Deanna16]

yes, i've read that alot on here. Hawaii Bill (or Lisa re: your hubby) when you got your predisone, were you just on that or something else with it? in my family predisone = looking like a blowfish ) small price to pay for being healthier, but it just sounded like such a generic choice for such a strong disease when my dr. mentioned it. I didn't go into details with her but she made it sound like it would/may be given alone...just wondering

[Robi1Knobi]

Hi Dee,

I also have moderate AA (has progressed from mild in 2 yrs), and am also a mom (of 1). I have a TERC mutation, which puts me at risk for pulmonary fibrosis and hepatitis. I see Dr. Neal Young at the NIH, but live in Austin, TX. He's going to start me on Danazol next month. Other than that, I've been healthy and only needed 1 blood transfusion in December 2009. I am trying to help myself with radical diet changes, namely trying a vegetarian diet (I do good unless my husband cooks bacon!). I would love to keep in contact with you, for support and questions..You can send me a message, Linda

[Lisa V]

Originally Posted by Deanna16

(or Lisa re: your hubby) when you got your predisone, were you just on that or something else with it?

Prednisone by itself hasn't proven very effective for either AA or MDS. Ken only got it as part of the ATG/cyclosporine protocol. All three have immune suppressive qualities, but prednisone's main role in it seems to be to combat serum sickness from the ATG. It is generally discontinued once that ceases to be an issue. Not a moment too soon for him, he HATED it! Not only the blowfish thing, but horrible mood changes, everything tasted funny, oral thrush infection, skin rash, etc. etc. Ugh. For his second round they gave him a greatly reduced dosage and faster taper since he hadn't had any serum sickness issues the first time around. That was much better.

It's mainly the cyclosporine, which he's still taking after more than 5 years. That is a drug usually given to prevent organ rejection. Normally that is tapered too around 6 months post-ATG, but his first taper resulted in a relapse, after which I read that a) people with a trisomy 8 mutation are often permanently dependant on cyclosporine, and b) that long-term CSA (cyclo) dependancy has also been observed in 26-62% of patients following ATG. That was enough to keep us from attempting another taper, and he's done well on it.

Yes, I think the theory that AA is an autoimmune disorder came about as a result of the finding that it responded to ATG, rather than any concrete evidence showing an autoimmune response. There are other theories that there may be some viral elements too, but as far as I know nobody's isolated a specific virus yet. Anyway, whatever works.

Ken does not have a family history of autoimmune illnesses (my family does, but I don't have AA!) I've talked to at least one other patient who was tested for autoimmune disorders and found none. If there is any discernable pattern for AA patients it seems to be that most of them had been unusually healthy and active throughout their lives, up until the point they were diagnosed. I have no scientific evidence to back this up, it's just that on one of the other forums we got used to hearing the same story over and over, i.e. "I've hardly been sick a day in my life, I've been athletic and taken good care of my health, so why is this happening to me?" We've found no answers to that question, but it has come up far more often than any relation to other sets of circumstances, including environment, chemical exposure, autoimmune conditions, vaccinations, etc. I'm not saying that these things couldn't play a role in some cases, just that I haven't seen a prevailing trend among the forum users.

[Deanna16]

Thank you Linda and Lisa for your replies.

Linda, if you are "watch and wait" then why are you being treated with the Danazol? what are your counts now that you have went from mild to moderate? How did your bone marrow look? Did anyone else in your family get tested for the mutation?

[Robi1Knobi]

I guess that Dr. Young wants to try Danazol because he has seen some good results from other people with TERC mutation. My counts from Nov. were: wbc 3.09, rbc 2.29, hgb 8.4, hct 24.9, platelets 61, and he didn't say anything about how my marrow looked this time. After my visit, I needed my first transfusion in Dec, of course my counts went up, but are starting to go down again. My January labs were: wbc 2.8, hgb 9.8, hct 27.9, platelets 62, anc 0.7. My Dad and his Dad both died in their 40's, and Dr. Young thinks they might have had the same mutation, since they both died with liver, blood, and lung problems. My mom and daughter were both tested, both negative, thank goodness. How is your nutrition? Have you read any books by people that have beat cancer? That's what I'm trying to go by...

[triumphe64]

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[Robi1Knobi]

I'm from Austin ). I also have been reading : "The Cure is in the kitchen" by Dr. Sherry Rogers and "What to eat if you have cancer" by Maureen Keane and Daniella Chace. On aplasticcentral.org, Bruce talks about what he has tried, and what he's doing to stay healthy. I also attend Juice Plus free lectures to learn about what I can do nutrition-wise. You can attend free (I take it and became a distributor), you don't have to buy anything...

[susansr]

dear deanna16:When my blood levels were all dropping rapidly but no answers why, the docs did all kinds of genetic testing on me; out of the blue my doc tells me I tested grossly abnormal for celiac disease, another autoimmune disease.
I was shocked since I was asymptomatic; no gi problems. I've been wondering if this set me up to also getting AA. Literature states if celiac is untreated for years, can negatively effect other organs, systems, etc. So that's my theory of getting AA, but docs just state very interesting.

[Chirley]

Hi Susanr,

I too tested grossly positive for antigliadin antibody (for celiac) but the small bowel biopsy showed NO celiac disease. The doctor said the biopsy was the definitive test not the blood test. Boy, was I happy, gluten free didn't appeal to me.

[peter v. c.]

..still trying to make that connection of AA, being autoimmune itself, to other autoimmune conditions from my understanding.

[Debra]

My Dad's case is very unusual. Back in 2004, he was diagnosed with vasculitis. It is believed to have been caused by medication, Lescol XL, which he was taking for moderately high cholestrol. He became very ill, and it tooks months before he was diagnosed. He was very sick, could barely walk, eat, and he lost massive muscle mass. It took several months before we obtained a diagnosis, and I took him down to Parkland Hospital emergency after he spent 2 weeks in another hospital with no diagnosis. Once diagnosed, he was treated with heavy doses of steroids. It took 2 years for him to regain about 3/4 of his strength, and he was in remission.
In June of 2007, he had a reoccurance of vasculitis. This time, his rheumatologist decided to treat him with Cytoxan, and he consulted with Dr. Neil Young of the NIH regarding this treatment, and he concurred. Unfortunately, Dad had another severe and extremely rare reaction to the Cytoxan - resulting in severe aplastic anemia.
So, yes - he has another autoimmune disease along with the SAA. However, in his case, both the vasculitis and the SAA are the result of severe and rare adverse reactions to medications. His rheumatologist at Southwestern could not believe such a thing could happen! He checked with Dr. Young at the NIH, and there is no other case like my father's that they know of!
Now his hemotologist wants to try NPlate for his low platelets, and I'm petrified about potential side effects! Making these decisions is absolutely frightening!