Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency

Bork, Konrad; Hardt, Jochen; Witzke, Günther

doi:10.1016/j.jaci.2012.05.055

Cited by 384 publications

(369 citation statements)

References 12 publications

Supporting

Mentioning

328

Contrasting

Unclassified

Order By: Relevance

“…Death from asphyxiation may occur at any age with mean age at asphyxiation of 40.6 years (range: 9–78 years). Death by asphyxiation is less common in pediatric C1‐INH‐HAE patients 50, 51, 52. Inspection of the larynx is more difficult in young patients and it takes less swelling to asphyxiate in small children because of the smaller upper airway diameter 53, 54, 55.…”

Section: Resultsmentioning

confidence: 99%

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Farkas

Martinez‐Saguer²,

Bork

et al. 2016

Allergy

177

308

View full text Add to dashboard Cite

BackgroundThe consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1‐INH‐HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to produce consensus recommendations for the diagnosis and management of pediatric patients with C1‐INH‐HAE.MethodsDuring an expert panel meeting that took place during the 9th C1 Inhibitor Deficiency Workshop in Budapest, 2015 (www.haenet.hu), pediatric data were presented and discussed and a consensus was developed by voting.ResultsThe symptoms of C1‐INH‐HAE often present in childhood. Differential diagnosis can be difficult as abdominal pain is common in pediatric C1‐INH‐HAE, but also commonly occurs in the general pediatric population. The early onset of symptoms may predict a more severe subsequent course of the disease. Before the age of 1 year, C1‐INH levels may be lower than in adults; therefore, it is advisable to confirm the diagnosis after the age of one year. All neonates/infants with an affected C1‐INH‐HAE family member should be screened for C1‐INH deficiency. Pediatric patients should always carry a C1‐INH‐HAE information card and medicine for emergency use. The regulatory approval status of the drugs for prophylaxis and for acute treatment is different in each country. Plasma‐derived C1‐INH, recombinant C1‐INH, and ecallantide are the only agents licensed for the acute treatment of pediatric patients. Clinical trials are underway with additional drugs. It is recommended to follow up patients in an HAE comprehensive care center.ConclusionsThe pediatric‐focused international consensus for the diagnosis and management of C1‐INH‐HAE patients was created.

show abstract

Section: Resultsmentioning

confidence: 99%

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Farkas

Martinez‐Saguer²,

Bork

et al. 2016

Allergy

177

308

View full text Add to dashboard Cite

show abstract

“…26, 54 The level and activity of C1-INH is decreased in about 85% of patients (HAE type 1), while in 15% of patients, the level is within the reference range but the activity is decreased (HAE type II). 55 The lowering of the C1-INH level and activity (>40% of the low border value) is a diagnostic criterion.…”

Section: Characteristic Features Of Bradykinin-mediatedmentioning

confidence: 99%

Bradykinin-mediated angioedema

Obtułowicz¹

2016

Polish Archives of Internal Medicine

View full text Add to dashboard Cite

“…Acquired angioedema (AAE) may be caused by anti-C1INH antibodies and tends to be associated with haematological malignancy or, more rarely, autoimmune disease [4,5]. Surveys suggest that HAE affects one in 50-100 000 of the population [6,7] and a recent study underlined the importance of diagnosis and appropriate treatment, as the mortality of HAE patients who had not been diagnosed was 29% compared to 3% in those who had been diagnosed [8].…”

Section: Introductionmentioning

confidence: 99%

A UK national audit of hereditary and acquired angioedema

Jolles

Williams

Carne

et al. 2013

Clinical and Experimental Immunology

View full text Add to dashboard Cite

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.

show abstract

Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency

Cited by 384 publications

References 12 publications

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency

Bradykinin-mediated angioedema

A UK national audit of hereditary and acquired angioedema

Contact Info

Product

Resources

About