Recurrent facial swelling is hard to diagnose and manage. Allergic and hereditary angioedema are among the most common cases. Many cases are idiopathic though and may be hard to treat
Of course HAE may be hard to treat, and even more to be diagnosed, but patients suffering from HAE should be considered at high risk of death and thus should be treated in a HAE reference center.
HAE is characterized by recurrent swelling of the skin, the abdomen, causing severe acute pain and the airways. A recent discovery type caused by mutation in factor XII gene (HAE type III) occurs mainly in women. Estrogens may play an important role.
In clinical practice, normal C4 values do not rule out the diagnosis of HAE. C1 inhibitor function must be assessed, if the clinical suspicion is strong, but this test is only available in references laboratories, but results may be obtained (now) very rapidly.
Recently, we have observed two family cases of this new type of HAE associated with severe symptoms and obstetrical complications. One of these women was Jewish, the other Arab. Obstetrical complications were fetus died in utero, ascites, a maternal death possibly secondary to laryngeal edema during a fourth pregnancy;
With Olivier Picone, we reported these two cases.
Obstetrical Complications and Outcome in Two Families with
Hereditary Angioedema due to Mutation in the F12 Gene
Olivier Picone, 1, 2, 3 Anne-Claire Donnadieu, 1, 2, 3 François G. Brivet, 4, 5
Catherine Boyer-Neumann, 1, 6, 7 Véronique Fremeaux-Bacchi, 8, 9 and René Frydman1, 2, 3
I
you can obtain the manuscript on my profile and publications, but i send you the PDF version
Thank you Francois Brivet for your answers. I will read your article for sure. If the patient has a HAE, at what age you think the symptoms will develop?
Age of onset is variable, but laryngeal edema is rare before the age of three. Attacks occur or worsen with puberty and with the use of estrogen containing birth control pills or during pregnancy, as observed in our two families
So if the patient is in her mid thirties, had multiple uncomplicated pregnancies, and recently developed swelling in the lower face and neck, do you think that this is not HAE?
In charge of mif thirthies woman with multiple uncomplicated pregancies and recent facial swelling, i will not discuss HAE, i will look for allergy (new perfum or new soap ? )I in absence of other symptoms. In absence of classical causes, you may look at C1Q inhibitor and C4 levels, but the propability to be normal is extremely strong... Remember that HAE attack duration is between 2 or 3 days
Thank you Franҫois for the informative answer. I think that I should check the C1 esterase inhibitor and C4 as you suggested. It may well be attributed to allergy.What drew my attention was the color of her oral mucosa. I have not seen in my whole life a brightly red oral mucosa, and the tongue was red, enlarged and fissured. This made me think of amyloidosis although the swelling is recurrent and not persistent.
The following tests were done for the patient: CRP=18.7 (normal value
MR syndrome or Miescher syndrome, in absence of facial paralysis?
It looks like an orofacial granulomatosis secondary to Sarcoidosis , mycobacterium infection ( ????) which may also precede an inflamatory bowel disease ..
Sorry, but i can not help you for the diagnosis and of course for the treatmen t: glucocoticoides (?), anti TNF in absence of mycobacterium infection (?????).
A potential polymorphism predisposition , others cases in her family?
Although the patient has two out of three features of MR syndrome,she may not qualify to this diagnosis since the facial swelling is recurrent and not persistent. Also we did not do any biopsy to confirm granulomatous formation. The patient will eventually be seen by allergy physician to identify the allergen if any.
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