Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

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, 2019.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Rasmussen, ER, Aanæs, K, Jakobsen, MA & Bygum, A 2019, 'Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance', BMJ Case Reports, vol. 12, no. 9, e231122. https://doi.org/10.1136/bcr-2019-231122

APA

Rasmussen, E. R., Aanæs, K., Jakobsen, M. A., & Bygum, A. (2019). Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance. BMJ Case Reports, 12(9), [e231122]. https://doi.org/10.1136/bcr-2019-231122

Vancouver

Rasmussen ER, Aanæs K, Jakobsen MA, Bygum A. Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance. BMJ Case Reports. 2019;12(9). e231122. https://doi.org/10.1136/bcr-2019-231122

Author

Rasmussen, Eva Rye ; Aanæs, Kasper ; Jakobsen, Marianne Antonius ; Bygum, Anette. / Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance. In: BMJ Case Reports. 2019 ; Vol. 12, No. 9.

Bibtex

@article{8762bf291b29437283ae9ee8c4467c84,
title = "Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance",
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.",
keywords = "dermatology, genetics, immunology",
author = "Rasmussen, {Eva Rye} and Kasper Aan{\ae}s and Jakobsen, {Marianne Antonius} and Anette Bygum",
year = "2019",
doi = "10.1136/bcr-2019-231122",
language = "English",
volume = "12",
journal = "BMJ Case Reports",
issn = "1757-790X",
publisher = "BMJ Publishing Group",
number = "9",

}

RIS

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

PY - 2019

Y1 - 2019

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

C2 - 31488451

AN - SCOPUS:85071743220

VL - 12

JO - BMJ Case Reports

JF - BMJ Case Reports

SN - 1757-790X

IS - 9

M1 - e231122

ER -

ID: 236272311