scholarly journals Hereditary angioedema type III (estrogen-dependent) report of three cases and literature review*

2013 ◽  
Vol 88 (4) ◽  
pp. 578-584 ◽  
Author(s):  
Amanda Rodrigues Miranda ◽  
Ana Paula Fusel de Ue ◽  
Dominique Vilarinho Sabbag ◽  
Wellington de Jesus Furlani ◽  
Patricia Karla de Souza ◽  
...  
Keyword(s):  
Literature Review ◽  
Clinical Features ◽  
Oral Contraceptives ◽  
Hereditary Angioedema ◽  
Genetic Alterations ◽  
C1 Inhibitor ◽  
Type Iii ◽  
Triggering Factors ◽  
Encoding Gene ◽  
And Control

In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives and pregnancy. There is no change in the C1 inhibitor as happens in other types of hereditary angioedema, and mutations are observed in the encoding gene of the XII factor of coagulation in several patients. The current diagnosis is mainly clinical and treatment consists in the suspension of the triggering factors and control of acute symptoms. A brief review of physiopathology, clinical features, genetic alterations and treatment are also presented.

Type III Hereditary Angioedema: First Description of a Mutation in Factor XII Gene and Clinical Features in a Brazilian Family

2012 ◽  
Vol 129 (2) ◽  
pp. AB82
Author(s):  
A.S. Moreno ◽  
S.O.R. Valle ◽  
A.T. Franca ◽  
S.A. Levy ◽  
D. Ponard ◽  
...  
Keyword(s):  
Clinical Features ◽  
Hereditary Angioedema ◽  
Factor Xii ◽  
Type Iii

Clinical Features of Patients with Hereditary Angioedema with Normal C1 Inhibitor: A Study of Seventy-Four Brazilian Individuals Belonging to Nine Unrelated Families

2016 ◽  
Vol 137 (2) ◽  
pp. AB250
Author(s):  
Juliana A. Sella ◽  
Luana Delcaro ◽  
Janaina M.L. Melo ◽  
Thais M. Nociti ◽  
Marina M. Dias ◽  
...  
Keyword(s):  
Clinical Features ◽  
Hereditary Angioedema ◽  
C1 Inhibitor

scholarly journals Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review

2019 ◽  
Vol 6 ◽  
Author(s):  
Camila Lopes Veronez ◽  
Régis Albuquerque Campos ◽  
Rosemeire Navickas Constantino-Silva ◽  
Priscila Nicolicht ◽  
João Bosco Pesquero ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Literature Review ◽  
Hereditary Angioedema ◽  
Case Reports ◽  
C1 Inhibitor

scholarly journals 83 Hereditary Angioedema and Normal C1-Inhibitor (HAE TYPE III)

2012 ◽  
Vol 5 ◽  
pp. S27-S28
Author(s):  
Konrad Bork ◽  
Karin Wulff ◽  
Peter Meinke ◽  
Nicola Wagner ◽  
Jochen Hardt ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Type Iii

scholarly journals Wolf in the sheep’s clothing: intestinal angioedema mimicking infectious colitis

2018 ◽  
Vol 11 (1) ◽  
pp. e226682
Author(s):  
Asif Mehmood ◽  
Hafez Mohammad Ammar Abdullah ◽  
Faisal Inayat ◽  
Waqas Ullah
Keyword(s):  
Abdominal Pain ◽  
Literature Review ◽  
Hereditary Angioedema ◽  
Signs And Symptoms ◽  
Rare Clinical Entity ◽  
Unique Case ◽  
Infectious Colitis ◽  
Type Iii ◽  
The Third ◽  
Life Threatening

Hereditary angioedema (HAE) is a relatively rare clinical entity that can potentially cause life-threatening airway or intestinal oedema, patients with the latter usually presents with symptoms of gastroenteritis like vomiting, diarrhoea and abdominal pain. Here, we present a unique case of a less recognised type of HAE that is type III in a patient who presented with signs and symptoms consistent with infectious colitis. She previously had similar episodes and was managed multiple times with antibiotics, with no satisfactory response. There, she underwent extensive diagnostic evaluation. On the basis of findings of further investigations on the current visit, she was eventually diagnosed with intestinal angioedema. To the best of our knowledge, the present paper represents the third reported case of type III HAE-induced intestinal angioedema. Additionally, we undertake a literature review of HAE.

Experience with Intravenous Plasma-Derived C1-Inhibitor in Pregnant Women with Hereditary Angioedema: A Systematic Literature Review

2020 ◽  
Vol 8 (6) ◽  
pp. 1875-1880.e3
Author(s):  
Joel P. Brooks ◽  
Cristine Radojicic ◽  
Marc A. Riedl ◽  
Scott D. Newcomer ◽  
Aleena Banerji ◽  
...  
Keyword(s):  
Literature Review ◽  
Pregnant Women ◽  
Systematic Literature Review ◽  
Hereditary Angioedema ◽  
C1 Inhibitor

The polymorphism at the microRNA-155 binding site in AGTR1 gene is not significantly associated with rheumatic heart disease in Saudi Arabia population

MicroRNA ◽  
2020 ◽  
Vol 09 ◽  
Author(s):  
S. Justin Carlus ◽  
Fiona Hannah Carlus ◽  
Mazen Khalid Al-Harbi ◽  
Abdulhadi H Al-Mazroea ◽  
Khalid M Al- Harbi ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Heart Disease ◽  
Rheumatic Heart Disease ◽  
Clinical Features ◽  
Left Ventricular ◽  
Genotype Distribution ◽  
Allelic Discrimination ◽  
Children And Young Adults ◽  
And Control ◽  
Rheumatic Heart

Background: Rheumatic heart disease (RHD) remains a major cause of cardiovascular diseases and the most devastating effects are on children and young adults. RHD is caused due to the interaction between microbial, environmental, immunologic, and genetic factors. The renin-angiotensin aldosterone system (RAAS) has been strongly implicated as the susceptibility pathway in the pathogenesis of cardiovascular disease. Objective: The present study investigated the modulating effect of Angiotensin II type 1 receptor (AGTR1) 1166A>C polymorphism on the RHD and its clinical features in Saudi Arabia. Methods: AGTR1 1166A>C polymorphism was genotyped in 96 echocardiographically confirmed RHD patients and 142 ethnically matched controls by TaqMan allelic discrimination method. Results: Genotype distribution of the AGTR1 1166A>C polymorphism was not significantly different between RHD and control groups. Further, AGTR1 1166A>C genotypes are not associated with the clinical features of RHD. These data support that there was no evidence for an association between AGTR1 1166A>C polymorphism and RHD in Saudi Arabia. Conclusion: To our knowledge, this is the first study that has investigated the possible association between AGTR1 1166A>C polymorphism and susceptibility to RHD and its clinical features. Even though AGTR1 gene is 1166A>C (rs5186) was reported to be associated with hypertension, left ventricular hypertrophy and coronary heart disease. Present study did not find any association between AGTR1 1166A>C polymorphism and RHD in Saudi Arabia. Further studies are needed to confirm our findings.

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