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Unread 11-26-2012, 04:47 PM   #1
Jackie1447
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Default Help for daughter with undiagnosed illness.

My 16 year old daughter was misdiagnosed with crps/rsd over a year ago. The doctors retracted that since they had never seen a case like hers. Her symptoms are monthly episodes of severe pain,swelling and bruise like discoloration(not bruising though) which flare up on three of her limbs and sometimes spread aggressively. She seems to get these flares the week following the end of her menstration and they last for 7-10 days. She has also in the past years has annual flares of severe abdominal pain that last for about 10 days. In between she is well and there are not fevers or other associated issues.
Any help or feedback would be appreciated.

Jackie
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Unread 11-26-2012, 05:06 PM   #2
mrsD
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Has she been evaluated for porphyria? The testing should be done when in a flare.

That is the only thing that comes to mind for me.

You might get some blood work done when she is in a flare, because erythemia nodosum can look like that too:
http://www.google.com/search?q=eryth...w=1173&bih=763

http://en.wikipedia.org/wiki/Erythema_nodosum
But I suppose this would have been looked for already?
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Unread 11-30-2012, 09:41 AM   #3
Jackie1447
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Thank you for your helpful input. She has not been testing for porphyria or erythema nodosum so we will talk to her doctors about getting her tested. She has had a punch biopsy of an active area in her hand and it sparked a whole spreading of intense pain,swelling and discoloration very quickly up her arm to her shoulder. The biopsy did not reveal any evidence of anything including not a single red blood cell.

Thanks again for your help. We are desparate for any information that will provide insight.

Jackie
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Unread 02-28-2013, 01:30 AM   #4
EdinNJ
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Consider checking with the "Syndromes Without A Name" (SWAN) mutual support network.
Google their name for their website.

They provide mutual support and information for parents of children with an undiagnosed or unnamed condition. They do this through an E-list discussion group for the parents to share information and provide each other with support.

- Ed at the American Self-Help Group Cleatinghouse
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Unread 03-12-2013, 11:13 PM   #5
Bryanna
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Hi Jackie,

I know of a condition called Angioedema that affects approximately 1 in 10 people to some degree at some point in their lives, but mostly women. The one common symptom that is associated with various forms of this condition are a sudden swelling that can occur anyplace in or on the body. These swelling episodes are often misdiagnosed and can be triggered by a number of things including hormones. It may be worth discussing with her doctors. Here's a link to Angioedema...
http://www.allergy.org.au/patients/s...rgy/angioedema

I hope this information is helpful to you.
Take care,
Bryanna



Quote:
Originally Posted by Jackie1447 View Post
My 16 year old daughter was misdiagnosed with crps/rsd over a year ago. The doctors retracted that since they had never seen a case like hers. Her symptoms are monthly episodes of severe pain,swelling and bruise like discoloration(not bruising though) which flare up on three of her limbs and sometimes spread aggressively. She seems to get these flares the week following the end of her menstration and they last for 7-10 days. She has also in the past years has annual flares of severe abdominal pain that last for about 10 days. In between she is well and there are not fevers or other associated issues.
Any help or feedback would be appreciated.

Jackie
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Unread 03-13-2013, 10:13 AM   #6
mrsD
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Quote:
Originally Posted by Bryanna View Post
Hi Jackie,

I know of a condition called Angioedema that affects approximately 1 in 10 people to some degree at some point in their lives, but mostly women. The one common symptom that is associated with various forms of this condition are a sudden swelling that can occur anyplace in or on the body. These swelling episodes are often misdiagnosed and can be triggered by a number of things including hormones. It may be worth discussing with her doctors. Here's a link to Angioedema...
http://www.allergy.org.au/patients/s...rgy/angioedema

I hope this information is helpful to you.
Take care,
Bryanna
I would like to clarify the statistic on that link given.
Angioedema is much more uncommon than 1 in 10. The stats I found were 1:50,000. (for hereditary angioedema). This may change with more awareness and better diagnosis of people who inherit this.

here is the quote from the link:
Quote:
Angioedema is not rare. Around 1 in 10 people will develop urticaria (hives) at some time in their life and around 1 in 3 of these will have angioedema as well. Having angioedema on its own (without urticaria) is much less common.
Hereditary angioedema does not have hives as a rule, or bruising dark discoloration, and typically has more common GI attacks. More like once a month or more.

But alot of people do get hives as children. That is also called angioedema. However, hives may respond to antihistamines, which hereditary angioedema does not.

There may be a pink to redness discoloration with the swelling, that is oddly shaped, but does not last long.

This is a better link:
http://www.hcplive.com/publications/...-04/2005-04_02

This is another thorough link:
http://www.haea.org/
This link goes into more detail about the various types including the estrogen triggered type.

The reactions women have around the menses, is because of a FALL in estrogen levels. Estrogen is highest mid cycle.
The falling estrogen at the start of the menses, also will trigger women with certain sensitivities, to pain... migraines(and other severe headaches) will occur at this time. And in seizure prone women seizures will happen when the estrogen falls at this point. Those are called catamenial seizures.
http://en.wikipedia.org/wiki/Catamenial_epilepsy
There is an interesting graph on this link.

The connection to angioedema and estrogen is when excess or high levels are present, there can be more "attacks" of swelling.
This happens with birth control pills, and hormone replacement therapy. In fact estrogen triggered angioedema is treated with androgens in women patients. So at the time of the beginning of the menses, the estrogen is falling and low and less likely to trigger HAE.

It is pretty complicated...and as the first link I gave here, suggests to the doctors reading it, the patient should be referred to an immunologist for evaluation. The blood tests are complicated and there are slight differences in complement levels and C1 inhibitor levels for the various types of angioedema.

The reason I know this, is because I had a crisis of acquired angioedema recently (from a high blood pressure medication), and a lifelong history of GI attacks and attacks following invasive procedures and tests. After I recover from this serious episode, I will be going to the immunologist for further evaluation. But my internist is pretty sure I have HAE. Mine is mostly GI attacks, with only some swelling, and some breathing compromise. Some people have serious breathing episodes which can be deadly. I don't see any mention here of the original poster's daughter having breathing issues.

When a patient has unusual symptoms, it is really imperative
to think outside the box, once obvious disorders are eliminated.
These tend to be genetic in origin for the most part.
__________________
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All truths are easy to understand once they are discovered; the point is to discover them.-- Galileo Galilei

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Mama gray squirrel hanging upside down on our flat feeder 2014. She is very beautiful IMO and has a lovely tail. There were a few peanuts in this feeder that morning.
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Unread 03-13-2013, 10:34 PM   #7
Bryanna
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Mrs. D.

Thanks for the extra internet links! I personally believe Angioedema is much more common than the stats that you have found because frequently patients are misdiagnosed or never diagnosed properly which leads to higher than recorded stats.

I too unfortunately know a bit about this subject as I was recently diagnosed with Idiopathic Angioedema. I have had some serious swellings of my face, finger joints, and the bottom of my feet but no breathing difficulties what so ever. Although I now carry an epi pen, I hopefully will never have to use it! I have found tons of information on the various types of this condition and if nothing else, it can manifest itself in many forms. Some symptoms being more subtle or obvious than others. The support groups that I have spoken to also agree that this is a much more common condition than realized.

As you know it can be difficult to distinguish the specific type of Angioedema because blood work, allergy testing, etc ..... only represents a picture of what is happening at the time the test was done. HAE testing is not 100% accurate either. What I am finding is that so many people are being treated based on their general symptoms rather than their blood markers.

There is so much to learn about this condition and I am open to anything you learn along your journey. I hope you are able to get a clear diagnosis and can get a handle on your situation. I know just how complicated this journey can be....it's probably the hardest thing that I've ever had to deal with.

I wonder how many people who visit here have Angioedema? Perhaps we should start a thread on it? Unless there already is one...??

Bryanna







Quote:
Originally Posted by mrsD View Post
I would like to clarify the statistic on that link given.
Angioedema is much more uncommon than 1 in 10. The stats I found were 1:50,000. (for hereditary angioedema). This may change with more awareness and better diagnosis of people who inherit this.

here is the quote from the link:


Hereditary angioedema does not have hives as a rule, or bruising dark discoloration, and typically has more common GI attacks. More like once a month or more.

But alot of people do get hives as children. That is also called angioedema. However, hives may respond to antihistamines, which hereditary angioedema does not.

There may be a pink to redness discoloration with the swelling, that is oddly shaped, but does not last long.

This is a better link:
http://www.hcplive.com/publications/...-04/2005-04_02

This is another thorough link:
http://www.haea.org/
This link goes into more detail about the various types including the estrogen triggered type.

The reactions women have around the menses, is because of a FALL in estrogen levels. Estrogen is highest mid cycle.
The falling estrogen at the start of the menses, also will trigger women with certain sensitivities, to pain... migraines(and other severe headaches) will occur at this time. And in seizure prone women seizures will happen when the estrogen falls at this point. Those are called catamenial seizures.
http://en.wikipedia.org/wiki/Catamenial_epilepsy
There is an interesting graph on this link.

The connection to angioedema and estrogen is when excess or high levels are present, there can be more "attacks" of swelling.
This happens with birth control pills, and hormone replacement therapy. In fact estrogen triggered angioedema is treated with androgens in women patients. So at the time of the beginning of the menses, the estrogen is falling and low and less likely to trigger HAE.

It is pretty complicated...and as the first link I gave here, suggests to the doctors reading it, the patient should be referred to an immunologist for evaluation. The blood tests are complicated and there are slight differences in complement levels and C1 inhibitor levels for the various types of angioedema.

The reason I know this, is because I had a crisis of acquired angioedema recently (from a high blood pressure medication), and a lifelong history of GI attacks and attacks following invasive procedures and tests. After I recover from this serious episode, I will be going to the immunologist for further evaluation. But my internist is pretty sure I have HAE. Mine is mostly GI attacks, with only some swelling, and some breathing compromise. Some people have serious breathing episodes which can be deadly. I don't see any mention here of the original poster's daughter having breathing issues.

When a patient has unusual symptoms, it is really imperative
to think outside the box, once obvious disorders are eliminated.
These tend to be genetic in origin for the most part.
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Unread 03-14-2013, 07:43 AM   #8
mrsD
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It is certainly difficult. My own internist just had a CME in this about a year ago. And most diagnositic sites on the net mention 1972 as a turning point in diagnosis.

I had the GI spells all thru childhood, and they were most awful in my twenties. I developed some "asthma" in my 40's.

Antihistamines don't work well for me or at all. I've had facial swelling and tongue, with breathing SOB on and off with that ACE inhibitor. My left ankle swells and goes down willy nilly and my hands swell when I type alot.

There are some OTC things that do block bradykinin receptors.

One is bromelain extract...which should be enteric coated for use for systemic effects. The uncoated type is degraded by stomach acid since it is an enzyme. I only found one brand and that is LEF... which I buy on Amazon now. Also mentioned was Green Tea, so now I am drinking that. Polyphenols in general are mentioned to be helpful...so whatever you want to do with that is up to you. Certain foods will trigger me. Fresh fruit, esp oranges will set me up for an attack. So does coffee.

Most of my attacks are GI ... last about 3 days, and come at least once a month, and if I am unlucky twice a month. I use imodium and Librax for them, which works pretty well.
I have had serious attacks following invasive procedures, including dental work. Needles will also cause swelling, and that started when I was around 10 yrs old when "penicillin shots" were common. I've had my whole arm swell up twice as big with any injection. Bug bites! I ended up in the hospital with a black fly bite on my eyelid, which swelled my eye shut and face swollen! I overreact to mosquito bites too.

Medical treatment is ferociously expensive if you get one of the new drugs listed at the HAE site. One of them I got a quote from CVS for $10,000 for one injection! . However the androgen treatment, esp the priming before surgeries etc looks promising, since it is less expensive. Not a great thing to look forward to for women however, as facial hair, acne and weight gain may happen with those androgens! It would be something to discuss with the immunologist. I see some positive effects with the Bromelain.
I might increase to 2x 500mg a day. Avoiding the triggers is hardest for me. When I feel good, I am tempted to have some fruit...then bingo... another attack. I had a huge attack last week from some nice oranges! DANG...

When I have the green tea (a huge mug) + Bromelain, my hands don't swell so much. I think alot of it is trial and error, depending on the person.

When I get my testing which might not be until after our summer vacation, I'll PM you with the results. I am still recovering from the lisinopril (which also caused a lupus reaction for me)...so I am not going to go for the HAE...yet. I have to see what was causing what..exactly.
__________________
aka mrsdoubtfyre
All truths are easy to understand once they are discovered; the point is to discover them.-- Galileo Galilei

.
Mama gray squirrel hanging upside down on our flat feeder 2014. She is very beautiful IMO and has a lovely tail. There were a few peanuts in this feeder that morning.
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Unread 03-14-2013, 11:41 AM   #9
mrsD
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BTW....there is a characteristic change in the skin when
the edema comes.

It's medical name is peau de l'orange.

http://en.wikipedia.org/wiki/Peau_d%27orange

I get it mostly on my forearms when my hands swell.
Right now it is very obvious on my right arm but not my left.
It goes away when my hands are not typing, and is not very obvious first thing in the morning.

It is less visible on the feet, but the lower legs sometimes shows it. Also I can gather up skin on my hands when they are not severely swollen, but at other times it is pulled tightly.

This is a sign of many other things, but also of the angioedema.
It goes away and returns, while some other medical signs are more permanent.
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aka mrsdoubtfyre
All truths are easy to understand once they are discovered; the point is to discover them.-- Galileo Galilei

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Mama gray squirrel hanging upside down on our flat feeder 2014. She is very beautiful IMO and has a lovely tail. There were a few peanuts in this feeder that morning.
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Unread 03-14-2013, 12:12 PM   #10
Bryanna
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Hi Mrs. D.

I too think I have had some form of this condition for at least the last 15 yrs or so. Mostly urticaria that would occur in random places for like no apparent reason. Some GI stuff in the past but I've gotten a handle on that by changing my diet to only fresh organic foods that are high alkaline and low on the acid and inflammatory scale. I no longer eat any form of sugar other than what is naturally occurring in fresh foods, no processed, canned or cured foods either. I spend a ton of time in the kitchen cooking!! I have a strict supplement regimen also and take my vitamins as if they were medicine! I also think stress irrelevant of the source, has profound affects on the body and immune system. It has been a trigger for me on numerous occasions.


Bromelain is a great anti inflammatory. I eat fresh pineapple in my shakes almost daily. I also think the LEF supplement is a great source too! Not sure what you are paying for that but I found it on vitacost.... $15.75 for a bottle of 60.

Perhaps you have heard of Dr Mark Hyman... he is a pioneer in functional medicine and has become very popular lately with his newest book The Blood Sugar Solution. I found this informative article about autoimmune disease written by him.... just in case you haven't seen it...

http://www.huffingtonpost.com/dr-mar..._b_283707.html

Yes, please keep in touch with me about your journey. The more information we can share the better!!

Thanks!
Bryanna





Quote:
Originally Posted by mrsD View Post
It is certainly difficult. My own internist just had a CME in this about a year ago. And most diagnositic sites on the net mention 1972 as a turning point in diagnosis.

I had the GI spells all thru childhood, and they were most awful in my twenties. I developed some "asthma" in my 40's.

Antihistamines don't work well for me or at all. I've had facial swelling and tongue, with breathing SOB on and off with that ACE inhibitor. My left ankle swells and goes down willy nilly and my hands swell when I type alot.

There are some OTC things that do block bradykinin receptors.

One is bromelain extract...which should be enteric coated for use for systemic effects. The uncoated type is degraded by stomach acid since it is an enzyme. I only found one brand and that is LEF... which I buy on Amazon now. Also mentioned was Green Tea, so now I am drinking that. Polyphenols in general are mentioned to be helpful...so whatever you want to do with that is up to you. Certain foods will trigger me. Fresh fruit, esp oranges will set me up for an attack. So does coffee.

Most of my attacks are GI ... last about 3 days, and come at least once a month, and if I am unlucky twice a month. I use imodium and Librax for them, which works pretty well.
I have had serious attacks following invasive procedures, including dental work. Needles will also cause swelling, and that started when I was around 10 yrs old when "penicillin shots" were common. I've had my whole arm swell up twice as big with any injection. Bug bites! I ended up in the hospital with a black fly bite on my eyelid, which swelled my eye shut and face swollen! I overreact to mosquito bites too.

Medical treatment is ferociously expensive if you get one of the new drugs listed at the HAE site. One of them I got a quote from CVS for $10,000 for one injection! . However the androgen treatment, esp the priming before surgeries etc looks promising, since it is less expensive. Not a great thing to look forward to for women however, as facial hair, acne and weight gain may happen with those androgens! It would be something to discuss with the immunologist. I see some positive effects with the Bromelain.
I might increase to 2x 500mg a day. Avoiding the triggers is hardest for me. When I feel good, I am tempted to have some fruit...then bingo... another attack. I had a huge attack last week from some nice oranges! DANG...

When I have the green tea (a huge mug) + Bromelain, my hands don't swell so much. I think alot of it is trial and error, depending on the person.

When I get my testing which might not be until after our summer vacation, I'll PM you with the results. I am still recovering from the lisinopril (which also caused a lupus reaction for me)...so I am not going to go for the HAE...yet. I have to see what was causing what..exactly.
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