My rheumy appt and C1q deficiency?

[Abbasgirl]

Well...I've gone from scared to really scared now.

Yesteday's appt...she said I don't have anything on my labs that show I have sjogren's or lupus or anything. What she does think I have is C1q esterase inhibitor deficiency and is sending me to see a hematologist in two weeks. She couldn't tell me much about it because she's only seen one case in her years of practice and she doesn't treat it. She did say it could cause a lot of my symptoms and she also said I have seriously low vitamin D and wrote me a script for some to take once a week. I asked her why did my lab tests show such strong points towards Sjogren's and/or Lupus. She said 20 people could test positive for that and only 1 actually have it.

I can't find a thing on this deficiency. I keep finding other things associated with it that seems to say it's associated with lupus, but if it's that's true, then why am I seeing a hematologist?

I am so confused. I walked in with the butterfly rash on my face and broken out on my arms too from too much fun in the sun last week. She said the deficiency could cause that too. I'm having trouble absorbing this new possible diagnosis. Has anyone here gone through this?

[Linda196]

Abbasgirl, there are two forms of C1q esterase inhibitor deficiency, hereditary and acquired, so you are probably being sent to a hematologist to determine which you may have; a geneticist might also be suggested.

This site: http://medical-dictionary.thefreedictionary.com/hereditary+angioneurotic+edema
gives a good description of the hereditary form (A hereditary condition manifested by recurring episodes of edema of the skin, mucous membranes, or viscera and associated with either a deficiency of an esterase inhibitor of one of the components of complement or a functionally inactive form of the inhibitor.)

You can find out more about the acquired type here: http://www.medscape.com/medline/abstract/10644276?src=emed_ckb_ref_0 (Acquired C1 esterase inhibitor deficiency is a rare condition associated with autoimmune or low-grade lymphoproliferative disorders)

It's interesting that both forms mention autoimmune disease as possible triggers to active symptoms. There is a supplement available (vapor-heated?inactivate HBV and HIV C1 inhibitor concentrate ) that may be helpful, but that's up to the doctor to determine, otherwise treatment is prophylactic.

[Abbasgirl]

Okay...I understood your post, although I had to look up a few things, but I'm having trouble understanding the links. I have really bad comprehension lately. I feel like I need to take biology all over again. 

I don't think she meant for me to go to see which one I have and then come back to her for treatment. She told me that she's sending me there because she doesn't know how to treat it and the hematologist would know. She wants me back in three months to check on my Vitamin D level and to see how I'm doing...to hear how things are going with the hematologist. She's saying this is what I have...it's my diagnosis. She said I don't have Sjogren's, Lupus, or anything...my labs were all clear but she does know I have this deficiency.

I have read that autoimmune disease is associated with this in other articles today too. One article I read stated that in 95% of cases of this deficiency that it's either due to SLE or the patient ends up with SLE.

I'm confused about what's going on. I really don't know the first thing about genetics or enzyme deficiency and it's hard to find something to read that I can understand. There's nothing I've found in laymen's terms or maybe it's just my fuzzy head. She did say my vitamin d level is a 7. I feel pretty lost today.

I don't have any swelling and never have except when I have injured something which is normal. I have had a lot of hives and rashes. More rashes than hives. Everytime I get out in the sun I get a rash across my nose and on my cheeks...and arms and legs too if they're exposed. Something I'm suffering with now. She wouldn't treat it because she said steroids would mess up my tests. Which is understandable but...*whine*!

Sometimes I get rashes and hives with no known cause. But I've never had any swelling. Except a few times when one finger joint was hurting and it swells up a little.

I just feel so lost. It took me a year to grasp an understanding about Sjogren's and other AI diseases and she tells me it's none of that, it's this deficiency and... I just don't know what to think and feel confused.

[Abbasgirl]

Okay...no one knows about this one. The rheumy did say it is rare...I had no idea how rare she meant. She even told me good luck finding anything on the internet to help me understand it.

Okay...so let me ask this...does anyone know where I can find simple resources that can help me understand what these complements are...or the whole biology of this situation? I'm coming up empty with that too. Everything I find is in doctor-ese. My local library hasn't a clue. I feel like I need to go back to the 9th grade.

[Linda196]

Basically, the Complement system is responsible for 4 things:
1. Breaking down bacteria and viruses during an infection.
2. Digestion (phagocytosis) or removal of antigens (the bodies produced when the body battles bacteria or virus).
3. Binding to or filling in specific complement receptors on the cells of the immune system, essentially making the cells complete so they can function, triggering specific cell functions like inflammation, and certain processes that regulate the immune system.
4. Immune Clearance, which removes immune complexes from immune system and deposits them in the spleen and liver for natural metabolism out of the body.

C3 and C4 ( the most common ones ordered)are used to determine whether deficiencies or abnormalities in the complement system are causing, or contributing to, a patient's disease or condition.

[Abbasgirl]

Thanks Linda. You are a fountain of smarts!!!

I read this yesterday and it was the start of some serious digging. I'm understanding more. But I'm still finding nothing I can understand specifically about c1q deficiency...except types that lead to kidney damage or swelling. I have nothing like that ...and am wondering if I'm going to, you know? It's scary. Everything I see about c1q deficiency has something autoimmune mentioned with it, mostly Lupus.

I'm glad the hematologist knows and it won't be a long wait to see her. Thanks for your help.