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Has swelling on face, hands, vagina, behind knees, and feet with stomach pain. Is it Angioedema?

Feb 2013
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Practicing since : 2002
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Hello, Is it possible for a female (age 14) to have Hereditary Angioedema, if she has facial, lip, tongue, hands, vaginal, behind knees, and feet swelling (non pitting) where it occurs off and on throughout every day with abdominal pain, lasting from a few hours to several days in a row without relief? There has been testing that does not prove she has the deficiency, however her (age 23) first cousin (undiagnosed for 10 years) who's a twin has the same swelling coming and going daily with the abdominal pain. It is difficult for the 14 year old to be alert and responsive during episodes and she sleeps for several hours appearing lethargic. Steroids, allergy medicine and Epinephrine are not effective. Symptoms have been present for over 8 years affecting her daily living. Could this be a different illness?
Posted Fri, 31 May 2013 in Child Health
Answered by Dr. E Venkata Ramana 1 hour later

Thank you for your query on Healthcare Magic.

Yes it is possible to have Hereditary Angioedema.

On and off swellings of these body parts are may be due to angioedema.

If there is any underlying structural anomalies like hemangiomas, the swellings will be permanent and they don't appear and disappear.

But what is her Pediatrician opinion regarding these swellings?

And physical examination of the child is important during the appearance of swellings and in their absence phase to come to a conclusion in addition to investigations.

Hope I have answered your query, if you have any clarification please let me know.

Above answer was peer-reviewed by
Follow-up: Has swelling on face, hands, vagina, behind knees, and feet with stomach pain. Is it Angioedema? 14 hours later
It seems as though her swelling is not always as pronounced as other pictures I've seen of people with angioedema. The concern is that the swelling last sometimes all day and then it goes away for an hour or two and then comes right back she doesn't get to eat or drink she's dehydrated a lot. The pediatrician always believe that she had hereditary angioedema however her test just don't prove positive. She has been seeing an allergy immunology doctor who diagnosed her with angioedema type 3. He's wanting to try her on Cinryz e and I just am uncomfortable because none of the previous treatments have helped including fresh frozen plasma. She has had all the other workups by other specialists to rule out other conditions. I'm concerned that she might be diagnosed incorrectly. She's very depressed because this been going on so long and she's behind in school and doesn't have a regular childhood or activities. Would there be any other kind of illness that cause this type of swelling ?
Answered by Dr. E Venkata Ramana 17 hours later

Thank you for getting back.

With the description it is looking like Hereditary angioedema.

The swelling is recurrent and if it is present it may last from a few hours to 2-3 days.

The abdominal pain is due to involvement of the intestinal tract.

I still think it is Hereditary angioedema because of the following:

1.Swelling is recurrent, on and off.

2.Swelling is involving lips, tongue, face, hands, feet, legs, and vaginal region.

3.Associated abdominal pain with the episodes of external swellings suggestive of
the intestinal tract.

4. There is a positive history of angioedema in relative (first cousin).

5. Pediatrician and allergy & immunologist both have examined and made the

There is no permanent cure for this problem, but the episodes are treated with fresh frozen plasma, danazole, ecallantide, c1 inhibitor concentrate, and epinephrine depending on the severity and symptoms.

Whenever child gets these swellings, you should use the prescribed medication and permanent cure is not available.

Antihistamines are of limited benefit in Hereditary Angioedema.

Hereditary Angioedema is a clinical diagnosis and investigations like c1 inhibitor function, c1 inhibitor level, and compliment components c4 and c2 will support the diagnosis.

One thing to remember is these investigations to be done during an episode of the swellings and symptoms.

Physical examination and review of detailed history of complaints and family history is important in diagnosing the problem.

If you are not convinced with the diagnosis you can discuss with the doctor and you can go for a second opinion.

I advise you to follow your allergy and immunology doctor advise and be in regular follow up.

Hope I have answered your query, if you have any clarification please let me know.

Above answer was peer-reviewed by
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