My rheumatologist recently diagnosed me with this and told me it is a real and rare autoimmune disease. I am waiting for an appointment with a hematologist for treatment because my rheumatologist says she is not qualified to treat me. I cannot find anything to learn more about this in laymen's terms. My rheumy could only tell me it could be the cause of my joint pain, headaches, trouble swallowing, dry eyes and mouth, ibs, and muscle pain. She said it would be hard to find anything to read about this disease as it is very rare. I'm asking if someone can help me find information or explain it to me very simply. Thanks.
I just got back from a doctor's appointment and I have been puzzling doctors and hospitals for about 7-8 months now. I have been horribly sick and all my tests come back negative (cat scans, ultrasounds, blood tests, colonoscopies), but my internal medicine doctor keeps seeing me and is trying more and more tests. I just had the blood test for the c1q esterase inhibitor. He says the condition he thinks I have is hereditary (which would explain a lot of what has gone on with my mother). I am going to try to find more info too. If I find something, I will try to post it here. The only thing he could tell me is that its very rare and it could cause the female problems I have, the hormone problems, and the digestive problems. Sorry I couldn't be more helpful. He did say it was extremely rare and that if I did have it, I would be the only case he would see in his lifetime and that most doctors don't see it ever.
I was diagnosed with this disease back in 2001 after being ill for 17 months. They were adamant that I must have inherited it, but I had my mom, who suffers from similar issues speak to her Rheumatologist to get a blood test to see if she, too, had it. Her Dr. and Rheumatologist scoffed and said it was too rare for her to have and didn't test her for it. It is assumed I have Acquired c1q esterase deficiency which is supposed to be the rarest form and I do believe it is inherited but not diagnosed before me. Who knows really? Doctors don't seem to agree about anything! I do know that the hereditary form usually doesn't react to steroids and anti-histimines and I sure don't.
The first symptom that I saw a doctor for was blood in my stool and remittent loose stools. At the time I thought I had eaten a sausage that wasn't cooked properly so I was tested for worms and treated for food poisoning and later with antibiotics. My symptoms became worse over a several month period and eventually came to the worst symptom - which was extreme swelling of the feet, lower legs, hands, face (especially around my eyes) & throat. I was treated with massive injections of anti-histamine directly into my veins, and later orally with anti-histamines and steroids plus anti-water pills. None of it helped. I had no hives, but itched because of the swelling so I never felt it was due to allergies. In reading your posts I can also relate to joint pain, headaches, trouble swallowing and dry eyes. Most doctors look at me crazy when I tell them I have it. In the beginning of it all I was diagnosed with Fibromyalgia by a Rheumatologist. My family doctor scoffed at a disorder he doesn't believe in. My mother has also been diagnosed Fibro.
My family doctor didn't like the diagnosis (which was confirmed by 2 blood tests) or treatment suggestions (blood transfusions) so sent me to yet another specialist. This doctor put me on Danazol which put me into a remission of sorts, but sent my liver function tests and cholesterol levels through the roof for the first time in my life so I had to be taken off of it. I carry an epi-pen and I'm supposed to wear a medic alert bracelet/necklace. I do find that stress can trigger it, I presume because your body reacts to it and isn't strong enough to fight off the other thing. I will say that since being on the Danazol my symptoms have not been as severe.
I have read that many people with this disorder could have a very small or unusual form of cancer hidden somewhere in their body... in particular a lymphoma. For me, I would believe that. I have read that it will get progressively worse. I personally believe that the more stress in your life, good or bad, the more symptoms you will have. I have read of many different treatments for it. Some are based upon the theory that it is caused by an allergy. None of them work for me, in fact, the side effects were hell. I don't believe the epi-pen is useful in the inherited form, but the last specialist said it might help enough to keep me alive long enough to get me to a hospital.
I have read that the following things can trigger it... oral contraceptives, aspirins or ibuprophen, alcohol, antihistamines (go figure) and even cinnamon and acetominaphins. I know one of my worst attacks did come when I had drank a couple of home-made beer a friend brought me, but I don't usually have any problems with that. I don't drink very often, though. I have been told by the specialist who diagnosed me, that if mine is very bad that the best way to treat it is with fresh-frozen blood plasma. I also know that I tend to get it when the temperature changes drastically, if I experience stress, if I injure myself in a somewhat minor way and things like that. I wondered if it might have been due to lawn chemicals and pesticides, because my symptoms are always worse in summer.
I don't know much more about it, but have compiled a lot of info over the years and have a lot of links. You can email me at ***this post is edited by moderator *** *** private e-mails not allowed **
Please read our Terms of Use
if you want, but I might not respond right away so be patient. Also, make sure you put the something like c1q esterase problem in the subject line.
Thanks and I hope this helps someone. I know what you go through. Good luck!
Hugs, Didi
The first symptom that I saw a doctor for was blood in my stool and remittent loose stools. At the time I thought I had eaten a sausage that wasn't cooked properly so I was tested for worms and treated for food poisoning and later with antibiotics. My symptoms became worse over a several month period and eventually came to the worst symptom - which was extreme swelling of the feet, lower legs, hands, face (especially around my eyes) & throat. I was treated with massive injections of anti-histamine directly into my veins, and later orally with anti-histamines and steroids plus anti-water pills. None of it helped. I had no hives, but itched because of the swelling so I never felt it was due to allergies. In reading your posts I can also relate to joint pain, headaches, trouble swallowing and dry eyes. Most doctors look at me crazy when I tell them I have it. In the beginning of it all I was diagnosed with Fibromyalgia by a Rheumatologist. My family doctor scoffed at a disorder he doesn't believe in. My mother has also been diagnosed Fibro.
My family doctor didn't like the diagnosis (which was confirmed by 2 blood tests) or treatment suggestions (blood transfusions) so sent me to yet another specialist. This doctor put me on Danazol which put me into a remission of sorts, but sent my liver function tests and cholesterol levels through the roof for the first time in my life so I had to be taken off of it. I carry an epi-pen and I'm supposed to wear a medic alert bracelet/necklace. I do find that stress can trigger it, I presume because your body reacts to it and isn't strong enough to fight off the other thing. I will say that since being on the Danazol my symptoms have not been as severe.
I have read that many people with this disorder could have a very small or unusual form of cancer hidden somewhere in their body... in particular a lymphoma. For me, I would believe that. I have read that it will get progressively worse. I personally believe that the more stress in your life, good or bad, the more symptoms you will have. I have read of many different treatments for it. Some are based upon the theory that it is caused by an allergy. None of them work for me, in fact, the side effects were hell. I don't believe the epi-pen is useful in the inherited form, but the last specialist said it might help enough to keep me alive long enough to get me to a hospital.
I have read that the following things can trigger it... oral contraceptives, aspirins or ibuprophen, alcohol, antihistamines (go figure) and even cinnamon and acetominaphins. I know one of my worst attacks did come when I had drank a couple of home-made beer a friend brought me, but I don't usually have any problems with that. I don't drink very often, though. I have been told by the specialist who diagnosed me, that if mine is very bad that the best way to treat it is with fresh-frozen blood plasma. I also know that I tend to get it when the temperature changes drastically, if I experience stress, if I injure myself in a somewhat minor way and things like that. I wondered if it might have been due to lawn chemicals and pesticides, because my symptoms are always worse in summer.
I don't know much more about it, but have compiled a lot of info over the years and have a lot of links. You can email me at ***this post is edited by moderator *** *** private e-mails not allowed **
Please read our Terms of Use
if you want, but I might not respond right away so be patient. Also, make sure you put the something like c1q esterase problem in the subject line.
Thanks and I hope this helps someone. I know what you go through. Good luck!
Hugs, Didi
pls meet dr.veneeta shoba,st johns hospital,bangalore
donot take tention,be cool&calm,eat food which is good for ur health.pry god sincerely ,regularly,surrender to his will.i am a muslim,i got an advice from my mother,to take quranic ayath water bath every day for 41 days.lead happy life.tensions are half of our disease.