All: Have any of you had specific blood tests to measure immune system function, specifically C1, C3, C4, and Factor XII? There seems to be some overlap between Hereditary or Acquired Angioedema and SCLS. Both cause capillary leak. Both are believed to be related to immune dysfunction. (not to be confused with a condition called Angioedema which is allergic). I do not have all results back but the basic tests showed that I have low C3 and high Factor XII. Have any of you had abnormal results of the immune complement system? Bev

I've thought that I had SCLS, but recently a doctor at Penn in Philadelphia, PA suggested that I may have Hereditary Angioedema. He ordered extensive tests, and I do not have the results yet. Hopefully I will get more information this week. It is all so confusing. I will ask if he did these tests when I speak with him. I am on Prednisone, and it is keeping me pretty level. The doctor did tell me that if it is specific protein that is lacking, that it can be treated. I'll let you know when I have more information. Good luck to you, and all those going through all these tests. Hopefully, we will get the proper treatment and enjoy better health. Mary Eileen

Mary Eileen: I just wanted to mention that if they find your C1 quantity is normal that is still not definitive. HAE type III does not show a decrease in C1. Also, you can have the appropriate quantity but it may be dysfunctional or you may have an antibody against it. There are also acquired types I and II. The complement proteins have different functions. C1 is what that test for the classic HAE type. You have to dig deeper for the rare types. I would not have known that I was low in C3 had I not researched it and asked for these tests specifically. Mayo tested my C1 (which was normal) and did not dig deeper. That was a big miss because C3 is a key part of the cascade. I have now been tested for much more specific aspects and function of the complement system but it will take a couple of weeks to get the results. The blood must be frozen and sent overnight. It is very interesting how the immune cascade is tested. (I am just learning about it). The good news (as you mentioned) is that they are now able to replace C1 and drug companies have programs to ensure you get it regardless of income. The other parts of the complement system is a different story. Some are using frozen plasma. I will be interested to hear your results. As for me, I am still searching for a diagnosis in hopes to try a therapy. Bev

Bev, I want to thank you for sharing this information.When I was at Mayo (MN) last year, they ruled out angioedema and ( hereditary) familial angioedema. Last week, I received my Clinical Documents from Mayo from my visit there last month which states their final diagnoses are: Capillary leak syndrome and Hemoglobin Hasharon (I had previously been diagnosed with). I note in my clinical documents that I was tested for C1 esterase which was normal.I just emailed Dr. Hayman regarding being tested for C3, C4, and Factor XII.I am assuming this would test for acquired angioedema. Thank you again for sharing.I am interested to hear of your results. Also, what type of Dr. is ordering these tests for you? Susan

Hi Susan: My initial tests were taken by my GP after I brought it to her attention. She simply pulled it up online with me during my appointment. She ordered the tests suggested online so that I would have a head start when I went to the immunologist. She said that he would need to interpret them and would expertise on further tests to be run. (immunologist are often allergists as well). There are other parts of the complement system and entire cascade function testing. The immunologist told me I would need to be tested when I am having a flare to use for comparison to my non-flare testing. These tests are not just for HAE. Depending on what numbers are low, high, or dysfunctional will point to types of immune dysfunction that causes different diseases. For some complement deficiencies there is up to an 80% change of developing Lupus or other autoimmune diseases due to the damage from inflammation. Very interesting to read if you google the complement system and it's relationship to primary and secondary immune deficiencies. Bev

Hi Bev. Your post is very timely for me. Over the past few months, it has been discovered my husband has dysfunctional C1 (he has enough, but it's not doing its job). I just haven't mentioned it because we can't see an immunologist until late November. Although a change in diagnosis would not surprise me, I think it will take a very very long time to happen. My husband's symptoms more closely resemble SCLS than any form of Angioedema I've read about.

Hello again. I just thought I'd give you all an update. We finally saw the immunologist, and she states that my husband's C1 has at times shown to be "borderline" low, and other times to be normal. However, she feels my husband's past episodes and history strongly indicate a classic case of SCLS, and not another immune disorder. But to be 100% sure, she is running full tests on the complement system, and will be consulting with a colleague who is an HAE expert. It now looks unlikely we will have a change in diagnosis. Further, the immunologist advised us to start IVIg as soon as possible to reduce further episodes, as repeated loss of blood flow to the organs leads to dangerous complications. I'm not sure when those transfusions will start as we have to coordinate with our internal medicine specialist (and getting in contact with him ahead of a scheduled follow up is a HUGE struggle and very frustrating experience). I would love to avoid spending December in the hospital.

Hi Josephite: Thanks for the update. It is very interesting. There seems to be a lot of overlap between HAE and SCLS. I have been reading many of the posts in the HAE web groups and they sound very similar. Some in the HAE groups (type 3 and idiopathic) test normal for all immune function. All groups talk about capillary leak though it seems to be more localized than systemic in nature. However, some have gone into a full blown systemic leak. I don't mean to suggest a change in diagnosis is needed. It appears there are several types of capillary leakers- Severe systemic leakers, Chronic systemic leakers, localized chronic leakers, localized severe leakers, and those who have experienced all of the above at various times. All appear to be immune function related. I think it is worth exploring specifically which parts of the immune system are dysfunctional because targeted therapy may be more effective. This is just a hunch. If I had an ICU stay I would be fighting for IVIG. Thankfully I have not had an episode requiring that type of care.

Hi Bev. I agree, there seems to be a lot of overlap, and also a lot of variance in how the capillary leak presents. For my husband, his leaks are systemic in nature, and most of his swelling is very generalized. Two of his six attacks warranted an ICU stay, and the first was very physically disabling (and almost mentally disabling as well, but thankfully that was only short-term). I agree as well that a more targeted therapy could be much more effective. So although we don't expect a change in diagnosis, I am so thankful to find a specialist who believes every single avenue should be looked at anyway. If we could just narrow down the problem, it could open more treatment options. For now, we hope the IVIg will do the trick and at least give us some relief, as we are currently in hospital every two months. I found our appointment with our immunologist very uplifting. She actually expressed interest not in just narrowing down the diagnosis, but she also expressed interest in helping us improve our quality of life (which has not been a big concern for other doctors treating us). I highly recommend anyone who hasn't yet seen an immunologist to try and get a referral to one. Our experience with one was very good.

I had a few tests in 2006 and my c4 was low, IgE was very high, and S Globulin was low. This may mean nothing and I have not been retested since. I am seeing an Immunologist(thanks to Arturo) tomorrow to try to get onto IVIG. I hope he is as sympathetic as yours Josephite

Good news. I saw an immunologist yesterday and I am going to have a trial run of IVIG next week. 2 sessions, 2 days apart. He was really understanding and kind to me and I am so grateful. Apart from taking tylenon ahead of time, is there anything else members can suggest that I take/do? Can I drive after wards? THANK YOU ARTURO FOR ALL YOUR WONDERFUL HELP!!