posted
I am re-posting what I posted in general. Somebody mentioned that this might be helpful to some of you with abdominal troubles and other things similar to what is going on with me.
posted 03 November, 2006 01:53 PM I finally have an explanation for all of the edema I have been experiencing for so many years. All were correct when they said it didn't seem to fit in a tick bourne illness.
I have been diagnosed with hereditary angioedema. We are still doing some more tests to confirm the type I have, although we think we know already. Parents are getting tested too, since it seems I got it from one of them.
I have the edema that is worst in my legs but actually all over. I have the stomach swelling and attacks, and occosional breathing issues. It is fairly serious and a VERY RARE disease.
I am starting thyroid treatment since mine is chronic, but it will take some time for it to build up in my body. Working on getting to the specialist for this. Also, making some decisions on other treatments.
I do not want to take androgen steroids that are often used. There are other options, although the "Golden Drug" is very expensive. I heard $2,000. a shot. Will have to see about major discounts or getting in a study if that is what I end up needing.
This disease explains all of my problems. I am not believed to still have tick bourne diseases. We will continue to re-evaluate this as my treatment for HAE continues.
If you all want more info, please go to this website
They have a good FAQ and pictures. My legs are worse than what they show.
Just wanted to give everybody an update. If you have alot of unexplained edema that is non-pitting, please look into HAE. Hopefully you won't have it, but I wish somebody had been able to tell us about this years ago. My life would likely be alot different right now. We hope and pray I will not remain so disabled and will slowly improve.
Best, Blackbirdsings
Posts: 114 | From USA | Registered: Sep 2005
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posted
Thank you Nancy. This board has been a tremendous help to me and I have made some good friends through it :-) I will continue to read and post when I can.
October has been a funny month. One doctor was so horrible we filed a complaint. Another was excellent but unable to treat me, but he could diagnose me.
I came home with that info. contacted the association for HAE and got some help from them. I went loaded with info. to my doctor, he agreed and made the same diagnosis.
So things happened differently than expected. I am waiting to find out now when I will be going to the specialist and if I will fit for the C1 medicine. Pray that I do, because it would mean no attacks for me, and if I had one it would be gone within 20mins of an infusion!
Posts: 114 | From USA | Registered: Sep 2005
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Marnie
Frequent Contributor (5K+ posts)
Member # 773
posted
"The addition of dexamethasone, prednisolone or cortisol (in order of efficacy) to human monocytes in culture produced dose-related
increases in the synthesis rates of the complement components C1 inhibitor (C1-inh), factor B (B) and C2."
Inate or acquired low level of C1? Can be either.
Sounds an awful lot like Addison's. Not enough cortisol.
HPA axis might be off. Supposedly phosphatidyl serine helps. I've read 100mg, 3x/day to correct high OR low levels...in time (months).
Breathing issues:
Phosphatidylserine specifically inhibited chymase and ****elastase***; it did not inhibit the other chymotrypsin-type serine endopeptidases tested, trypsin, papain, collagenase, carboxypeptidase A, or cathepsin D.
PMID: 3882053
Curious:
Pseudomonas aeruginosa
An opportunistic pathogen that is the most significant cause of hospital-acquired infections, particularly in predisposed patients with metabolic, hematologic, and malignant diseases.
It produces toxic factors such as lipase, ***esterase***, lecithinase, ***elastase***, and endotoxin, some of which may contribute to its pathogenesis.
Was this a problem when you were a child (the edema) or do you think a recessive gene emerge or do you think it was triggered by an infection i.e., acquired?
Sounds like you are very fortunate doctor-wise (one who wants to find the root cause).
[ 04. November 2006, 07:32 AM: Message edited by: Marnie ]
Posts: 9481 | From Sunshine State | Registered: Mar 2001
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HAE is due to an esterase deficiency not cortisol. What you added to the thread sounds like something else. OR a completely different version, HAE is treated much differently than what was listed there.
I do not mean to cause a problem here, I just do not find that info. valid to what I am talking about. Perhaps I misunderstood what you were trying to say.
I urge you to take a look at the following website http://haea.org Hereditary Angioedema Association for the USA
They have a great FAQ, a chart of all the causes of HAE, and links to articles as well as articles in the patient section of the website.
Androgen steroids are usually used. If not that we can be given the C1-Inhibitor that is low in us with HAE. There are a few other treatments that are ONLY being used in studies at this point and are not FDA approved yet for the general public.
We think I got this from one of my parents. One has stomach issues, and we now believe it to be HAE. They will be getting bloodwork later this month to see if that is where I got it from.
I have type two we think at this point, but we need more bloodwork and the specialist to decide. My C1 and other levels have been low BUT one time they weren't. That means I have a link you could say that doesn't work.
At the same time I might have the other type because my C1 has come back low so many times.
It's a little confusing, I will update once I go to the specialist.
People can also aquire this disease, or be normal and suddenly have the gene mutate and end up with HAE. Please look at the chart on the website-it will explain what I am trying to so, so much easier than I can at this point.
I had stomach issues as a child, they cleared up somewhat as a teen and flaired off and on. I had a bad attack at 18 but it went away by the next day, so it was ignored.
I started swelling at 19 and have been sick since. I am now 25. Sad and appalled it took this long to find an answer. HAE often happens in the late teens or twenties. Some people go longer without having an attack. It varies from person to person.
Yes, I am fortunate and blessed to finally have a doctor that cares and is trying to find out all the answers to this puzzle. My medical team is going to be VERY key in getting my life back and keeping me alive. I have been having minor throat swelling off and on for months now. They want to get me treatment before it becomes a scary emergency.
Hope this helps and didn't confuse!
Posts: 114 | From USA | Registered: Sep 2005
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