Management of Hereditary Angioedema in Pediatric Patients

Farkas, Henriette; Széplaki, Gábor; Visy, Beáta; Harmat, G.; Bowen, Tom

doi:10.1542/peds.2006-3303

Cited by 104 publications

(121 citation statements)

References 79 publications

(110 reference statements)

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“…Swellings are generally rare before the age of 2 years and are relatively uncommon before adolescence, with a mean age of onset of swellings of 8-12 years [23]. The reported impact on quality of life in children available in 29 patients was rated as moderate in 14%, with no patients in the severe category.…”

Section: Paediatric Datamentioning

confidence: 99%

A UK national audit of hereditary and acquired angioedema

Jolles

Williams

Carne

et al. 2013

Clinical and Experimental Immunology

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SummaryHereditary angioedema (HAE) and acquired angioedema (AAE) are rare lifethreatening conditions caused by deficiency of C1 inhibitor (C1INH). Both are characterized by recurrent unpredictable episodes of mucosal swelling involving three main areas: the skin, gastrointestinal tract and larynx. Swelling in the gastrointestinal tract results in abdominal pain and vomiting, while swelling in the larynx may be fatal. There are limited UK data on these patients to help improve practice and understand more clearly the burden of disease. An audit tool was designed, informed by the published UK consensus document and clinical practice, and sent to clinicians involved in the care of HAE patients through a number of national organizations. Data sets on 376 patients were received from 14 centres in England, Scotland and Wales. There were 55 deaths from HAE in 33 families, emphasizing the potentially lethal nature of this disease. These data also show that there is a significant diagnostic delay of on average 10 years for type I HAE, 18 years for type II HAE and 5 years for AAE. For HAE the average annual frequency of swellings per patient affecting the periphery was eight, abdomen 5 and airway 0·5, with wide individual variation. The impact on quality of life was rated as moderate or severe by 37% of adult patients. The audit has helped to define the burden of disease in the UK and has aided planning new treatments for UK patients.

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Section: Paediatric Datamentioning

confidence: 99%

A UK national audit of hereditary and acquired angioedema

Jolles

Williams

Carne

et al. 2013

Clinical and Experimental Immunology

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“…Более того, около 1/3 пациентов с абдоминальным синдромом подвергаются ненужным хирургическим вмешательствам и диагностической лапаротомии или лапароскопии [12].…”

Section: Discussionunclassified

Hereditary Angioedema in Children — A Rare Clinical Case in the Practice of the Abdominal Surgeon

Дьяконова¹,

Поддубный²,

Никитина³

et al. 2014

Vopr. sovr. pediatr.

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ВВЕДЕНИЕБоль в животе -одна из наиболее частых причин обращения за помощью к врачу во всем мире [1,2]. Причины боли в животе многочисленны, но в первую очередь необходимо исключить хирургическую патоло-гию, что особенно актуально у детей. В хирургической практике принято проводить дифференциальный поиск «от простого к сложному», поэтому, стремясь не пропу-стить острую хирургическую патологию, врачи не всегда вспоминают о редко встречающихся педиатрических заболеваниях.Наследственный ангионевротический отек -хро-ническое заболевание, относящееся к группе пер-вичных иммунодефицитов с аутосомно-доминантным типом наследования и неполной пенетрантностью, связанное с качественным или количественным гене-тически детерминированным дефектом генов, коди-рующих синтез ингибитора эстеразы компонента комплемента C1 (С1 inh ), которое проявляется в виде рецидивирующих отеков кожи и слизистых оболочек дыхательных путей, желудочно-кишечного и урогени-тального трактов [3,4].

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“…Diş çıkarma ve yazı yazarkan kolun sürtünmesi gibi küçük travmalar bile ataklara neden olabilmektedir. Bunun yanında üst solunum yolu ve Helicobacter pylori enfeksiyonları, emosyonel stres, cerrahi girişim, çocuklarda çok nadir kullanılmasına rağmen ACE inhibitörü gibi ilaçlar da atakları tetikleyen diğer faktörlerdir (8,9). Olgumuzda en olası tetikleyici mekanizmanın minör travma olduğu düşünüldü.…”

Section: Discussionunclassified

“…Hafif ödemli ataklarda genellikle spontan gerileyebildiği için tedavi önerilmez. Eğer hastada farinks veya larinks ödemi, boyun, dudak, yüz ödemi, şiddetli gövde ödemi veya abdominal semptomlar ve bizim hastamızda olduğu gibi şiddetli ekstremite ödemi varsa bu hastalara akut atak tedavisi yapılmalıdır (9). C1-INH konsantrelerinin intravenöz kullanımı en uygun tedavi yöntemi olmakla birlikte ülkemizde bulunmaması nedeniyle TDP akut ataklarda en sık kullanılan alternatif tedavi yöntemidir.…”

Section: Discussionunclassified

Hereditary angioedema on the occasion of a pediatric case

Turan¹,

Okur²,

Acer³

et al. 2011

Gaziantep Med J

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ÖzetHerediter anjioödem, C1-esteraz inhibitörünün konjenital eksikliğinden kaynaklanan, otozomal dominant kalıtımlı, nadir görülen ve yaşamı tehdit edebilen bir hastalıktır. Tüm anjioödem vakalarının yaklaşık olarak %2'sinden sorumludur. Subkutan veya submukozal bölgede rekürren anjioödem atakları ile karakterizedir. Burada şiddetli ekstremite ödemiyle başvuran ve taze donmuş plazma ile tedavi edilen herediter anjioödemli 5 yaşında bir kız hasta sunulmuş ve bu vesileyle hastalığın kliniği ve tedavi yaklaşımları gözden geçirilmiştir. Anahtar kelimeler: Herediter anjioödem; taze donmuş plazma; tedavi AbstractHereditary angioedema is a rare and life threatening autosomal-dominant disorder which results from the congenital deficiency of C1-esterase inhibitor. It is responsible for approximately 2% of all angioedema cases. Recurring angioedema attacks that involve subcutaneous and submucosal areas are the hallmarks of hereditary angioedema. Here, we review the clinical findings and therapeutic approaches of the disease by presenting a 5-years old female patient with severe extremity edema who was diagnosed as hereditary angioedema and treated with fresh frozen plasma.

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Management of Hereditary Angioedema in Pediatric Patients

Cited by 104 publications

References 79 publications

A UK national audit of hereditary and acquired angioedema

A UK national audit of hereditary and acquired angioedema

Hereditary Angioedema in Children — A Rare Clinical Case in the Practice of the Abdominal Surgeon

Hereditary angioedema on the occasion of a pediatric case

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