Hereditary angio-oedema in Denmark: a nationwide survey

Bygum, Anette

doi:10.1111/j.1365-2133.2009.09366.x

Cited by 216 publications

(222 citation statements)

References 27 publications

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“…Newborns may experience erythema marginatum as a prodromal symptom, but rarely swelling 4, 27. The reported age of onset of attacks varies from 4.4 to 18 years with mean age of first attack at the age of ten 3, 5, 6, 7, 8, 9, 10, 11, 12, 13. Colic may be an unrecognized symptom of C1‐INH‐HAE in infancy 28, 29, 30.…”

Section: Resultsmentioning

confidence: 99%

“…Of pediatric patients with C1‐INH‐HAE, 42% to 58% experience prodromal symptoms including erythema marginatum (a map‐like rash on the skin; reported from newborn onward) 4, 6, 14. Skin lesions with a similar appearance may develop in viral and bacterial infections and autoinflammatory diseases including rheumatoid diseases and periodic fever syndromes.…”

Section: Resultsmentioning

confidence: 99%

“…Edema involving the submucosa of the upper airways may cause airway obstruction and without treatment may lead to suffocation and death. The reported age of onset of attacks varies from 4.4 to 18 years with mean age of first attack at the age of ten 3, 5, 6, 7, 8, 9, 10, 11, 12, 13. Early onset of symptoms may predict a more severe course of disease 3, 14, 15.…”

mentioning

confidence: 99%

“…The diagnosis of C1‐INH‐HAE type II may be limited by the availability of testing for functional C1‐INH level. In patients without a positive family history or with C1‐INH‐HAE type II, delay in diagnosis is usually longer 6, 9, 11, 12, 18, 19, 20. The utility of antifibrinolytics and androgens in C1‐INH‐HAE prophylaxis and plasma‐derived C1‐INH (pdC1‐INH) in replacement therapy have long been recognized.…”

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confidence: 99%

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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

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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.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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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

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“…There is a scarcity of epidemiologic studies on HAE prevalence. Studies based on national HAE registries show a minimal prevalence ranging from 1.09 to 1.51 in 100,000 inhabitants,[5-7] with the actual prevalence expected to be higher. Estimates indicate that approximately 1 in 50,000 people in the general population has HAE[8].…”

mentioning

confidence: 99%

Hereditary Angioedema Caused By C1-Esterase Inhibitor Deficiency: A Literature-Based Analysis and Clinical Commentary on Prophylaxis Treatment Strategies

Gower¹,

Busse²,

Aygören‐Pürsün³

et al. 2011

World Allergy Organization Journal

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Hereditary angioedema (HAE) caused by C1-esterase inhibitor deficiency is an autosomal-dominant disease resulting from a mutation in the C1-inhibitor gene. HAE is characterized by recurrent attacks of intense, massive, localized subcutaneous edema involving the extremities, genitalia, face, or trunk, or submucosal edema of upper airway or bowels. These symptoms may be disabling, have a dramatic impact on quality of life, and can be life-threatening when affecting the upper airways. Because the manifestations and severity of HAE are highly variable and unpredictable, patients need individualized care to reduce the burden of HAE on daily life. Although effective therapy for the treatment of HAE attacks has been available in many countries for more than 30 years, until recently, there were no agents approved in the United States to treat HAE acutely. Therefore, prophylactic therapy is an integral part of HAE treatment in the United States and for selected patients worldwide. Routine long-term prophylaxis with either attenuated androgens or C1-esterase inhibitor has been shown to reduce the frequency and severity of HAE attacks. Therapy with attenuated androgens, a mainstay of treatment in the past, has been marked by concern about potential adverse effects. C1-esterase inhibitor works directly on the complement and contact plasma cascades to reduce bradykinin release, which is the primary pathologic mechanism in HAE. Different approaches to long-term prophylactic therapy can be used to successfully manage HAE when tailored to meet the needs of the individual patient.

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Quantification of human C1 esterase inhibitor protein using an automated turbidimetric immunoassay

Tange¹,

Kaur²,

Verma

et al. 2018

Clinical Laboratory Analysis

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Hereditary angio-oedema in Denmark: a nationwide survey

Cited by 216 publications

References 27 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

Hereditary Angioedema Caused By C1-Esterase Inhibitor Deficiency: A Literature-Based Analysis and Clinical Commentary on Prophylaxis Treatment Strategies

Quantification of human C1 esterase inhibitor protein using an automated turbidimetric immunoassay

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