Genetic Analysis as a Practical Tool for Diagnosis of Hereditary Angioedema With Normal C1 Inhibitor: A Case Report

2016 ◽  
Vol 26 (1) ◽  
pp. 48-72
Author(s):  
Moreno AS ◽  
Maia LSM ◽  
Palhas PB ◽  
Dias MM ◽  
Muglia VF ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Analysis ◽  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Practical Tool

Genetic Analysis As a Practical Tool to Diagnose Hereditary Angioedema with Normal C1 Inhibitor: A Case Report

2015 ◽  
Vol 135 (2) ◽  
pp. AB197
Author(s):  
Luisa Karla P. Arruda ◽  
Luana Delcaro ◽  
Priscila B. Botelho Palhas ◽  
Marina M. Dias ◽  
Valdair F. Muglia ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Analysis ◽  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Practical Tool

scholarly journals A case report of COVID-19 virus infection in a patient with hereditary angioedema

2020 ◽  
Author(s):  
Amin S. Kanani
Keyword(s):  
Case Report ◽  
Virus Infection ◽  
Hereditary Angioedema ◽  
Clinical Course ◽  
C1 Inhibitor ◽  
Case Presentation

Abstract Background: This is the first reported case of coronavirus disease of 2019 (COVID-19) in a patient with hereditary angioedema (HAE) type 1/2. Case presentation: A female with HAE receiving C1 inhibitor prophylaxis had no angioedema attacks when contracting the COVID-19 virus and had a mild clinical course.Conclusions: In this case there was no exacerbation of angioedema with the COVID-19 virus and the mild clinical course could possibly be from receiving C1 inhibitor prophylaxis.

scholarly journals Short-term Prophylaxis for Delivery in Pregnant Women with Hereditary Angioedema with Normal C1-Inhibitor

2020 ◽  
Vol 42 (12) ◽  
pp. 845-848
Author(s):  
Caroline Guth de Freitas Batista de Moraes ◽  
Liya Regina Mikami ◽  
Lilian Pereira Ferrari ◽  
João Bosco Pesquero ◽  
Herberto José Chong-Neto ◽  
...  
Keyword(s):  
Case Report ◽  
Pregnant Women ◽  
Hereditary Angioedema ◽  
Genetic Test ◽  
Pathogenic Mutation ◽  
Normal Serum ◽  
C1 Inhibitor ◽  
Short Term ◽  
Exon 9 ◽  
Short Term Prophylaxis

Abstract Objective To verify the efficacy of short-term prophylaxis for vaginal or cesarean section childbirth with plasma-derived C1-inhibitor concentrate in pregnant women. They should have hereditary angioedema (HAE) and normal plasma C1-inhibitor. Methods Case report of pregnant women diagnosed with HAE with normal C1-inhibitor who had been treated with intravenous C1-inhibitor concentrate for prophylaxis of angioedema attacks when hospitalized for delivery. The exon 9 of the Factor 12 (F12) genotyping gene was performed by automatic sequencing in all patients. Results Three cases of pregnant women with HAE with normal serum level of C1-inhibitor are reported. The genetic test detected the presence of a pathogenic mutation in the F12 gene. Deliveries occurred uneventfully and patients had no HAE symptoms in the following 72 hours. Conclusion C1-inhibitor concentrate could be useful to prevent angioedema attacks during and after delivery.

scholarly journals A case report of COVID-19 virus infection in a patient with hereditary angioedema

2020 ◽  
Author(s):  
Amin Kanani
Keyword(s):  
Case Report ◽  
Virus Infection ◽  
Hereditary Angioedema ◽  
Clinical Course ◽  
C1 Inhibitor ◽  
Case Presentation

Abstract Background: This is the first reported case of coronavirus disease of 2019 (COVID-19) in a patient with hereditary angioedema (HAE) type 1/2. Case presentation: A female with HAE receiving C1 inhibitor prophylaxis had no angioedema attacks when contracting the COVID-19 virus and had a mild clinical course.Conclusions: In this case there was no exacerbation of angioedema with the COVID-19 virus and the mild clinical course could possibly be from receiving C1 inhibitor prophylaxis.

scholarly journals Hereditary angioedema and pregnancy: successful management of recurrent and frequent attacks of angioedema with C1-inhibitor concentrate, danazol and tranexamic acid – a case report

2009 ◽  
Vol 2 (3) ◽  
pp. 123-125 ◽  
Author(s):  
D S Milingos ◽  
P Madhuvrata ◽  
J Dean ◽  
A Shetty ◽  
D M Campbell
Keyword(s):  
Case Report ◽  
Pregnant Woman ◽  
Tranexamic Acid ◽  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Successful Management ◽  
C1 Esterase Inhibitor ◽  
Threatening Condition ◽  
Life Threatening ◽  
Esterase Inhibitor

Hereditary angioedema (HAE) is a rare but potentially life-threatening condition caused by deficiency of C1 esterase inhibitor. It is characterized by subcutaneous swelling in any part of the skin, gastrointestinal and respiratory tracts. We present the case of a pregnant woman with known HAE that deteriorated during pregnancy with frequent attacks that were managed successfully with danazol, tranexamic acid and regular intravenous administration of C1 esterase inhibitor.

scholarly journals Switch to Icatibant in a Patient Affected by Hereditary Angioedema with High Disease Activity: A Case Report

2012 ◽  
Vol 25 (1) ◽  
pp. 269-273
Author(s):  
D. Firinu ◽  
M.P. Barca ◽  
L. Serusi ◽  
M.M. Lorrai ◽  
M.M. Peralta ◽  
...  
Keyword(s):  
Case Report ◽  
Disease Activity ◽  
Hereditary Angioedema ◽  
High Disease Activity ◽  
C1 Inhibitor ◽  
Bradykinin B2 Receptor ◽  
Acute Attacks ◽  
The Eu

Icatibant, an antagonist of the bradykinin B2 receptor, was approved for the treatment of acute attacks of hereditary angioedema in the EU in 2008. This paper presents the case of a 65-year-old woman affected by frequent acute attacks of hereditary angioedema who benefitted from a change of therapy to icatibant, following years of treatment with C1-inhibitor.

Sign in / Sign up

Export Citation Format

Share Document