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    Default Hi. I'm new.

    I've visited this site off and on for a year now. Since I've not been diagnosed, I've only lurked. But I've been learning. I'm facing something right now that has me very confused and I wonder if anyone here could help me. Has anyone here ever heard of C1q esterase inhibitor deficiency disease?

    A year ago a doctor suspected I may have Lupus and/or Sjogren's Syndrome and had lab tests done. I had visited her complaining of a vicious rash. This particular one would not let up at all and I was miserable with it. I had rashes before, but this one wouldn't go away and nearly covered me from head to toe. I had a lot of other physical ailments I didn't bring up until she asked about them. I thought my growing agony was just weak bones, joints, age, etc... The lab tests confirmed her suspicions and she sent me to a rheumy.

    I've been through 3 rheumatologists since then. I've been diagnosed with uctd, then it changed to mctd, and my latest diagnosis is very confusing. My latest rheumy seems very kind and thorough. She told me she knows that I don't have lupus or sjogren's...but that I have c1q deficiency disease, is sending me to a hematologist which I see in another week, and she's sending me there because the hematologist treats that disease, not a rheumatologist.

    I can find a lot online about C1q deficiency, but I hardly understand any of it. It's all in complicated doctor language. However, in most articles I read, I do find it stated that most people with this deficiency develop Lupus or have it. That I have understood. So I'm really confused how she's sure I don't have Lupus already or anything else we suspected. She stated it as if there's no way I have that and I have this particular very rare disease that 2% of the population have. I had seriously low vitamin D that she wrote a script for...she said normal is 47 and I was a 7. She explained that people with autoimmune disease tend to have low vitamin d. Which confuses me even more. She wants to see me in three months to check up on me. But it's like she's finished with me really and now I'm the hematologist's puzzle to solve.

    I have the photo sensitivity and malar rashes which I have now and the rheumy saw it at my last visit. I got upset about this diagnosis she gave me and the rash has gotten much worse...and now I'm breaking out elsewhere. I have bad joint pain with no swelling or redness that has been constant for years getting worse. I have awful headaches, have had them daily for years, and lately have been getting migraines which I doubt they're truly migraines. My primary is calling them migraines, but this is new excruciating head pain to me. It involves my right eye, as migraines tend to have also but... I have the eye pain nearly around the clock. Other times it's dull and nagging. I've had to visit the ER with help getting the pain under control five times in the past year. I've had x rays, CT scans, and an MRI and they found nothing. I have serious dry mouth problems and sores. I have very dry eyes. I could go on and on, but you see what I mean, right? I'm so confused. I realize there are other illnesses that can cause these symptoms, but after reading that most people with this deficiency end up with or have Lupus, I'm wondering how good a rheumy she is now. Unless I'm reading things wrong, but friends have looked at it all too and come to the same confusion I have.

    My question is, has anyone here had to see a hematologist for help in a diagnosis and was it helpful? And I'd also like to ask if anyone can help me understand this diagnosis of C1q deficiency disease? Has anyone read anything about it or have knowledge of it? I've been searching for a week and I can't find anything that doesn't go over my head that mentions it. Our library has nothing and none of the libraries in the system do either. The rheumy couldn't explain much to me because she doesn't treat it and knows little herself except that it's rare...she's had one other patient with it in the past ten yrs she's practiced...she said it causes internal swelling and hives and could cause a lot of my other symptoms, but she said no way it's Lupus or Sjogren's or anything she can help with.

    Help?

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    Hey Abbasgirl,

    Wow...I looked that up and probably came up with what you did...so do you have a swollen tongue or anaflactic (sorry spelling) shock? The one thing that I did see is that it is autoimmune and not sure why you would be going to a hematologist and not a rheumatologist....perhaps another opinion is needed by perhaps a rheumatologist...I would keep the appt with the hematologist though...Sorry I can't offer anything better than my support.
    I have promises to keep and miles to go before I sleep, and miles to go before I sleep.......Robert Frost

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    hi abbasgirl

    first let me welcome you to the group. if anyone can help with your dilemmma, it is the knowledgeable people here.

    second, i see you are in georgia, i am in the atlanta area, and have a great rheumy, if you want a referral.

    third, we have another member who is being sent to a hemotologist. he is going through the va system, and they did not talk to him about why, but he is also going through this process with questions of why.

    i am so sorry that i am not familiar with your diagnosis, but we have some incredibly compassionate members who have a lot of medical knowledge, give everyone time to wake this morning, and i am sure you will see some help coming your way.

    again, welcome, glad you decided to join, and let me know if you need a rheumy referral.
    Phyllis

    share a smile today

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    From what Angle has explained to me about the hematologist is that they will do a more extensive blood work to try and find out what is going on with me. I have very low white blood cell count along with very low blood pressure.

    Up until about a year ago you could see nice large veins in my arms like body builds have. Not any more my arms are nothing but skin an bones now. All my cloths fit me like a sack. I use to weight in the 160 range now I'm in the 130 range. Just call me bones.

    I will post back with what I find out from the hematologist. Between the dermatologist, rheumy and the hematologist maybe they will get it all figured out.


    Sitting on the beach drinking lemonade.
    Fair wind and following seas.
    David

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    From what I can gather from the medical journals & articles that I've read, this disease is a disorder that is quite rare and usually associated with an auto-immune disorder or a Lymphoproliferative disorder (several conditions in which lymphocytes are produced in excessive quantities. They typically occur in patients who have compromised immune systems, such as is the case with Lupus patients). This disorder is usually suspected when the patient has had several cases of Angioederma (swelling that occurs in the tissue just below the surface of the skin, most often around the lips and eyes. It is similar to hives, but hives involve itchy red welts on the surface of your skin, whereas angioedema is a deeper swelling) as well as low levels of C3 and C4 (The complement system is complicated and hard to explain without a lot of medical jargon. But, put simply, the compliment system is a mediator of inflammation and complement deficiency predisposes us to the development of Lupus. C4 deficiency, whether partial or complete, confer a high risk to developing Lupus, whereas C3 deficiency is only rarely associated with SLE-like illnesses. Activation of the C3 & C4 levels are indicative of SLE, particularly of renal disease in Lupus. Measuring the activation of C4 together with that of C3 indicates the mechanisms involved in and aids in the clinical definition of lupus nephritis. C4 and C3 are good screening test for lupus patients with renal disease).
    Now, if you present with recurring angioederma and low levels of C4 but normal levels of C3, then doctors will suspect C1q esterase inhibitor deficiency. THey will then test the levels of your C1q and C1esterase. Activation of these systems is also complex & hard to explain without a lot of medical jargon, but to shorten it, activation of the complement system is a cascading system (one thing activates another, which in turn activates another & so on). During inflammation, low levels of C1 esterase inhibitor activity, activated C1 and plasmin generate activated C2 kinin. Activated
    C2 kinin is thought to be the mediator of the angioedema observed in patients with C1 esterase inhibitor deficiency.
    There are two forms of C1 esterase inhibitor deficiency. The inherited
    form is usually detected in the first or second decade of life; and the acquired form primarily affects adults or elderly patients with no family history for this disease. These two forms can be distinguished by the measurement of serum C1q: Levels of C1q are normal in the inherited form of C1 esterase inhibitor deficiency and are decreased in the acquired
    form.
    As you've noted, this disease has been found in Lupus patients, especially lupus patients with renal disease. Aslo, when doctors found the C1q deficiency, lupus markers were not present (i.e. - the disease was not active and/or blood work did not indicate active Lupus).
    It might be beneficial for you to ask your doctors to check your kidney function to ensure that there is no problem there.
    The referral to the hemotologist may be due to the complement system as they have a much better understanding of this system.
    I hope this has been helpful and that I did not confuse you more. Please let me know if you need anything further!

    Peace and Blessings
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    Saysusie
    Look For The Good and Praise It!

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    Default Thanks for the replies

    Thanks for all the replies. I feel a little less lonely about it. Not that I don't have loving people in my life that try to put themselves in other's shoes, but only people who have been there and done that personally know how it really feels. This overwhelms me and you know what I mean when I say that.

    Hello Sick n Tired...I've never had any swelling of any sort or have gone into anaphylaxis either. I've broken out in hives a lot, but it never got worse than that and 9 times out of 10 we weren't sure what caused the hives. Your support means a lot. Thanks.

    Hi Mountaindreamer...I live far north of Atlanta but see a rheumy there at Emory Clinic. I have to travel two hours to see her, but we have nothing to choose from in my area and she's my PPO. So far she's the best rheumy I've met, but how good she is remains to be seen. I feel she's pretty good to find the deficienies, especially the C1q. Thanks for the offer of a referral. I may need it later. Thanks for the welcome too. You're all very sweet.

    Grime, I'm very sorry that you're stuck in the dark same as me. You've seen a dermatologist? Did you feel it was worth it? I'm considering seeing one. I had a huge weight loss years ago. I was 88 lbs for a long time and they couldn't figure out why either. I was told I just have a fast metabolism and to enjoy it because someday it would all catch up with me. Sigh. I doubt that diagnosis was right even though I did finally gain weight and am now twenty lbs overweight. I had the huge veins too. It's scary. I hated to go out in public because people would stare. ((((hugs)))) I look forward to hearing how your appt goes.

    SaySusie...I think I understand it better. Thank you so much for explaining that to me. I've printed it out and now my husband understands better too. I'm just not used to this at all. I like being able to look things up and study. I like going into the doc's office prepared with knowledge and a list of questions. I feel a little better about that now, and I have so many questions for the hematologist. Lol.

    Thanks again everyone. It's nice to be out of lurkdom and "talking" to you all.

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    Default hi

    Hi,

    Just to say hello and welcome and so glad you found us.Hope you have a Happy Easter today and did something lovely.

    love
    Angel.xxxx
    I am still here,just been on new meds so unable to function like i used to.I will pop back,just know im thinking of you all and hoping you are keeping on keeping on.xxxxxxx

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    Abbasgirl:
    It is great to have you here with us We want to make sure that you know that you are not alone!!

    Peace and Blessings
    Namaste
    Saysusie
    Look For The Good and Praise It!

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    just wanted to say welcome
    The worse the bad times are the more we appreciate the good things in life..

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    Thank you Angel Oliver, Saysusie, and TobyJug. I hope Easter was special for everyone. I had a slow relaxing day at home with family. It's nice to come here and find more welcomes. You're all such a friendly and warm bunch. I'm blessed to be here. I've been reading a lot in the Faith and Fellowship threads lately...soaking up more encouragement.

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