Acquired complement C1 esterase inhibitor deficiency in a patient with a rare SERPING1 variant with unknown significance
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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, 2019.Research output: Contribution to journal › Journal article › Research › peer-review
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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