143:
Severe Tongue Swellings In Hereditary Angioedema With A Specific Mutation In The Plasminogen Gene
Saturday, March 3, 2018
South Hall A2 (Convention Center)
Konrad Bork, MD, Karin Wulff, Lars Steinmueller-Magin, Ingrid Braenne, Guenther Witzke, Jochen Hardt
RATIONALE: Recently a new form of hereditary angioedema with a specific plasminogen gene mutation (HAE-PLG) has been identified by whole exome sequencing and family studies. Recurrent localized skin swellings and tongue swellings seem to be the most frequent symptoms. Aim is to provide more information about tongue swellings.

METHODS: A total of 64 patients (17 men and 47 women) with HAE-PLG coming from 15 families were studied for tongue swellings.

RESULTS: Fifty-one of 64 HAE-PLG patients (79.7%) had a total of 3.821 tongue swelling, on average 74.0 tongue swellings per patient (standard deviation (SD) 118; range 1 to 626). Eleven of 64 patients (17.2%) had exclusively recurrent tongue swellings (range 1 to 150) and no other clinical signs. On average tongue swellings started at the age of 31.8 years (SD 14.4 years; range 5 to 63 years). Three hundred and thirty-two out of all tongue swellings (8.7%) in 24 patients were associated with dyspnea, voice changes and imminent asphyxiation. Two women died by asphyxiation due to a tongue swelling with upper airway obstruction, one woman at age 36 and another woman at age 47. The latter woman had 160 tongue swellings before the fatal upper airway obstruction. Nine patients were treated in an intensive care unit for 25 attacks of tongue swellings with upper airway obstruction. Intubation was required in four patients and cricothyrotomia in two patients.

CONCLUSIONS: Potentially life-threatening tongue swellings are a frequent and important feature of HAE-PLG.