Hereditary angioedema or Quincke's disease

[sunnyshine]

Does anyone's child have this? How does it manifest. My daughter is being retested for it as bloods were inconclusive last time. Thanks

[eragon]

hi, my son was recently investigated for this, and HAE was not the cause of the problem.
He has another immune system problem, which is being controlled with lots of antihistamne.
This does include facial swelling, stomach /chest and bowel problems.
Getting to this stage of elimnating HAE as a problem has taken about 7 months so far.

[sunnyshine]

Thanks for you comment. She is still under investigation. If it is not this how did you get the other diagnosis? Was it just more testing? We are going back next week for further testing. Can I ask what you ds was diagnosed with and the symptoms? Thanks

[eragon]

its complicated. Has other poteintially life threatening condtion so was under the care of hospital already. Been in 3 london hospitals this year, with different docs/immunlogists.

[footphobic]

sunny, sorry I missed this post yesterday. I have dcs, both boys and girls with HAE. How old is your dd? Testing can be inconclusive when they are very young but should be reliable once they are over 1 ish.

What symptoms is your dd having?

It varies enormously in severity, location of swelling and frequency of 'attacks' and the pattern of attacks varies from person to person, but fairly typical and common HAE 'attacks' are, swelling of extremities/limbs, facial swellings, genitals and abdo/bowel swellings. The abdo swellings can cause very visible distension of the stomach, but very commonly the swelling is not actually visible as it is deep within the bowel/intestine. The internal pressure and blockages can cause immense pain and cramping and pressure from the internal swelling on the stomach can cause severe and repeated vomiting. If untreated an attack would last 2-3 days and is very debilitating.

Swellings are usually slow to progress and recede, but occasionally with some patients they can come on and go more quickly. Facial swellings, especially mouth area should not be left untreated in case they track down to the airway. Airway swellings are not usually as common as other types, such as abdo, limbs etc, in most patients, while some may get them, some patients never have them, but they are a possibility and these need urgent treatment.

Often attacks are spontaneous, but there are also several triggers, low grade infection, hormones, physical trauma, stress, etc.

As it is genetic, not allergic, sufferers of HAE do not usually have itching and hives. Occasionally, some get some heat and itching, but it's not common. By the same token, HAE doesn't respond to anti-histamines, adrenaline or corticosteroids.

It sounds scary, sorry, and obviously it is not confirmed, but if your dd does have HAE, with the right knowledge, the right consultant (can make a huge difference) and support and pro-active treatment, you can establish a good treatment regime, and patients can have (very) good quality of life. HTH.

I have extensive experience of managing and treating this condition in children so please feel free to post any amount of questions or message me.

Also, please have a look here there is also a supportive facebook site run along side.

[sunnyshine]

Thanks for your detailed and very helpful replies. Her main reason for testing has been stomach pain and hives but I see you say this is not a common symptom. I wonder if they are clutching at straws I will go next week for the blood tests and see what results are from there. It's horrible when you have to keep pushing medical staff for a diagnosis but want it sorted. Thank you again.

[eragon]

my son has the same symptoms, but responds to anti histamines. standard treatment for HAE didnt make any difference.
my son had a blood/skin test for histamine levels.
they take some blood, seperate it and reinject histamine from blood in to his skin, this was a positive result. so conclude is different types of histamine fighting with each other. (there is a war going on in my sons blood!!!)
medical care in this area still ongoing.
however is linked to stress/illness etc.

[footphobic]

I do know of some unusual cases of diagnosed HAE where some related itching/hives is experienced with attacks, so it wouldn't necessarily be ruled out, but as I mentioned, it's not typical and to my knowledge I think this has been related to HAE type 3 which is a newly identified type, uncommon and mostly affecting females. The testing is different to type 1, difficult and more complex and not necessarily conclusive I believe. There are 3 types of HAE, type 1 being by far the most common inherited type and is what the vast majority have.

I also know of other cases of similar symptoms, e.g., one with swollen bloated stomach, intense itching, hives etc where they are trying to establish HAE, but there is a complex family history of urticaria on mother's side and attempts to get a conclusive diagnosis is proving very difficult. I think there are cases that present with some possible HAE symptoms and they do go down this route as a long shot or to eliminate. It is hard, but you do have to be very firm and keep pushing for the diagnosis.

With HAE type I, an obvious factor is parental history? Have you or dd's father been tested, as you haven't mentioned I'm assuming not. HAE can vary from attacks 2-3 times a week to years apart, it's unusual but possible that someone could have it, where attacks vary in presentation and are so far apart that the connection isn't made. If there is no family history HAE type I is probably unlikely.