Abstract
Angioedema (AE) is caused by a wide range of diseases and pharmaceuticals; it can become life-threatening when located to the airways. Patients with deficiency or malfunction of complement C1 esterase inhibitor (hereditary or acquired) experience recurrent AE due to an accumulation of the vasoactive mediator bradykinin (BK). Complement C1 inhibitor normally decreases BK production, so a reduced function hereof causes increased levels. The diagnosis of hereditary or acquired AE can be difficult due to similarities to allergic reactions (swelling, abdominal pain, rash). We describe a 35-year-old man presenting with upper-airway AE progressing rapidly and promptly required cricothyroidotomy. Complement and autoantibody screening together with sequencing of SERPING1 were performed and gave the diagnosis of acquired complement C1 esterase inhibitor deficiency. The patient is unusual to have this disease before the age of 40 years. No associated comorbidities were found. It is important to know that antiallergic medication is not effective in BK-mediated AE.
| Original language | English |
|---|---|
| Article number | e231122 |
| Journal | BMJ Case Reports |
| Volume | 12 |
| Issue number | 9 |
| Number of pages | 5 |
| ISSN | 1757-790X |
| DOIs | |
| Publication status | Published - 1. Sep 2019 |
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Keywords
- dermatology
- genetics
- immunology
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Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance. / Rasmussen, Eva Rye; Aanæs, Kasper; Jakobsen, Marianne Antonius; Bygum, Anette.
In: BMJ Case Reports, Vol. 12, No. 9, e231122, 01.09.2019.Research output: Contribution to journal › Journal article › Research › peer-review
TY - JOUR
T1 - Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance
AU - Rasmussen, Eva Rye
AU - Aanæs, Kasper
AU - Jakobsen, Marianne Antonius
AU - Bygum, Anette
N1 - This article has been accepted for publication in BMJ Case Reports , 2019 following peer review, and the Version of Record can be accessed online at http://dx.doi.org/10.1136/bcr-2019-231122. © Authors. Reuse of this manuscript version (excluding any databases, tables, diagrams, photographs and other images or illustrative material included where another copyright owner is identified) is permitted strictly pursuant to the terms of the Creative Commons Attribution-Non Commercial 4.0 International (CC-BY-NC 4.0) http://creativecommons.org. https://creativecommons.org/licenses/by-nc/4.0.
PY - 2019/9/1
Y1 - 2019/9/1
N2 - Angioedema (AE) is caused by a wide range of diseases and pharmaceuticals; it can become life-threatening when located to the airways. Patients with deficiency or malfunction of complement C1 esterase inhibitor (hereditary or acquired) experience recurrent AE due to an accumulation of the vasoactive mediator bradykinin (BK). Complement C1 inhibitor normally decreases BK production, so a reduced function hereof causes increased levels. The diagnosis of hereditary or acquired AE can be difficult due to similarities to allergic reactions (swelling, abdominal pain, rash). We describe a 35-year-old man presenting with upper-airway AE progressing rapidly and promptly required cricothyroidotomy. Complement and autoantibody screening together with sequencing of SERPING1 were performed and gave the diagnosis of acquired complement C1 esterase inhibitor deficiency. The patient is unusual to have this disease before the age of 40 years. No associated comorbidities were found. It is important to know that antiallergic medication is not effective in BK-mediated AE.
AB - Angioedema (AE) is caused by a wide range of diseases and pharmaceuticals; it can become life-threatening when located to the airways. Patients with deficiency or malfunction of complement C1 esterase inhibitor (hereditary or acquired) experience recurrent AE due to an accumulation of the vasoactive mediator bradykinin (BK). Complement C1 inhibitor normally decreases BK production, so a reduced function hereof causes increased levels. The diagnosis of hereditary or acquired AE can be difficult due to similarities to allergic reactions (swelling, abdominal pain, rash). We describe a 35-year-old man presenting with upper-airway AE progressing rapidly and promptly required cricothyroidotomy. Complement and autoantibody screening together with sequencing of SERPING1 were performed and gave the diagnosis of acquired complement C1 esterase inhibitor deficiency. The patient is unusual to have this disease before the age of 40 years. No associated comorbidities were found. It is important to know that antiallergic medication is not effective in BK-mediated AE.
KW - dermatology
KW - genetics
KW - immunology
U2 - 10.1136/bcr-2019-231122
DO - 10.1136/bcr-2019-231122
M3 - Journal article
VL - 12
JO - B M J Case Reports
JF - B M J Case Reports
SN - 1757-790X
IS - 9
M1 - e231122
ER -