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

Miranda, Amanda Rodrigues; Ue, Ana Paula Fusel de; Sabbag, Dominique Vilarinho; Furlani, Wellington de Jesus; Souza, Patricia Karla de; Rotta, Osmar

doi:10.1590/abd1806-4841.20131818

Cited by 19 publications

(16 citation statements)

References 17 publications

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“…HAE is an autosomal dominant disease caused by quantitative (type I) or functional (type II) deficiency in C1-INH (C1-INH-HAE) or normal C1 inhibitor associated with mutations of the F12 gene (FXII-HAE) [2]. Martinez-Saguer et al reported 22 cases of type I HAE and recommended the use of prophylactic administration of hC1-INH before labor [3].…”

Section: Discussionmentioning

confidence: 99%

A Case of Pregnancy Complicated with Type 1 Hereditary Angioedema (HAE 1)

Ushijima¹,

Sasaki²,

Horiuchi³

et al. 2017

J Clin Case Rep

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Hereditary angioedema (HAE) is an inherited autosomal dominant trait and symptoms of HAE include sudden onset of edema in various organs, such as subcutaneous edema, laryngeal edema and gastrointestinal tracts mucosa. We have experienced a case of a pregnant woman diagnosed with HAE and successfully managed her pregnancy. The patient was 37 years old, gravida 1, primiparous. She had experienced two attacks of angioedema during pregnancy but her delivery course was not affected by her HAE. The frequency of attacks during pregnancy had decreased compared with before and after pregnancy. Treatment using human C1-inactivator concentrate was as effective for attack suppression during pregnancy as it had been in her non-pregnant state.

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Section: Discussionmentioning

confidence: 99%

A Case of Pregnancy Complicated with Type 1 Hereditary Angioedema (HAE 1)

Ushijima¹,

Sasaki²,

Horiuchi³

et al. 2017

J Clin Case Rep

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“…The prevalence of HAE-nl-C1INH is unknown, as is the frequency of "de novo" mutations. Several F12 mutations causing HAE-XII have been described, all involving exon 9 (Cichon et al, 2006;Dewald & Bork, 2006;Binkley, 2010;Miranda et al, 2013;Bork et al, 2015;Mansi et al, 2015). Haplotype evidence suggests that the most common F12 mutation associated with HAE-nl-C1INH, Thr328Lys, derives from a founding mutation in central Europe approximately 1000 years ago (Cichon et al, 2006).…”

Section: Hae-nl-c1inh Genetics and Pathophysiologymentioning

confidence: 99%

How we manage persons with hereditary angioedema

Zuraw

Christiansen

2016

Br J Haematol

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Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder clinically characterized by recurrent attacks of subcutaneous and mucosal swelling that can result in significant morbidity and even mortality. Several novel therapies introduced since 2008 have dramatically transformed the approach to management. In this review we will discuss the current understanding of the pathophysiology of HAE, diagnostic evaluation of recurrent angioedema without urticaria, and the therapeutic approach to HAE. We advocate taking an integrative approach to care in order to normalize the lives of affected patients.

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“…Hereditary angio-oedema (HAE) is an autosomal dominant disorder that causes episodic non-pitting oedema of subcutaneous and mucosal tissues. It is rare, affecting 1 in 10–50 000 people in any ethnic group and is caused by a qualitative or quantitative deficiency in C1 esterase inhibitor, a regulator of multiple inflammatory pathways 1 2…”

Section: Introductionmentioning

confidence: 99%

Hereditary angio-oedema as a rare cause of small-bowel obstruction

et al. 2019

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A 52-year-old man with known hereditary angio-oedema (HAE) presented with a 2-day history of progressive severe abdominal pain, distension, nausea, vomiting and constipation. CT of his abdomen and pelvis showed small-bowel obstruction and ascites. HAE is a rare autosomal dominant disorder caused by a C1 esterase deficiency and involves episodic oedema of subcutaneous and mucosal tissues. It commonly affects the face and limbs, causing deformity; the respiratory tract, causing life-threatening laryngeal swelling; and the gastrointestinal tract, causing small-bowel obstruction. An infusion of a C1 esterase inhibitor was given to the patient. His symptoms resolved within 6 hours, and a repeat CT showed complete resolution 24 hours later. Small-bowel obstruction in HAE is often misdiagnosed, leading to ineffective treatment and unnecessary surgery. Therefore, this should be suspected in patients with HAE presenting with an acute abdomen, and clinicians should understand the unique treatment required.

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

Cited by 19 publications

References 17 publications

A Case of Pregnancy Complicated with Type 1 Hereditary Angioedema (HAE 1)

A Case of Pregnancy Complicated with Type 1 Hereditary Angioedema (HAE 1)

How we manage persons with hereditary angioedema

Hereditary angio-oedema as a rare cause of small-bowel obstruction

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