Hereditary angioedema: Molecular and clinical differences among European populations

Speletas, Matthaios; Szilágyi, Ágnes; Psarros, Fotis; Moldovan, D.; Magerl, Markus; Kompoti, Maria; Gramoustianou, Evangelia; Bors, András; Mihály, Enikő; Tordai, Attila; Avramouli, Antigoni; Varga, Lilian; Maurer, Marcus; Farkas, Henriette; Germenis, Anastasios E.

doi:10.1016/j.jaci.2014.08.007

Cited by 69 publications

(84 citation statements)

References 16 publications

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“…Preimplantation diagnosis and implantation of unaffected fetuses is under consideration in some jurisdictions. No mutation can be detected in the C1‐INH ( SERPING1 ) gene in 8–10% of C1‐INH‐HAE 64, 65, 66, 67.…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

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%

“…Genetic testing may be helpful bearing in mind that not all of the mutations detected by routine genetic testing are undoubtedly disease causing 65. The detection of disease‐associated mutations requires a meticulous analysis of the gene and, possibly, the genetic testing of other affected and disease‐free family members.…”

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

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“…The clinical presentation of HAE type I and II is identical. In classic HAE with C1INH deficiency, more than 95% of patients have a mutation in SERPING1 which encodes C1INH [20, 80]. SERPING1 is an unstable gene due to a high incidence of Alu repeat sequences and CpG sites [20].…”

Section: Pathophysiology and Molecular Genetic Backgroundmentioning

confidence: 99%

Hereditary Angio-Oedema for Dermatologists

Bygum¹

2019

Dermatology

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Among angio-oedema patients, hereditary angio-oedema (HAE) should not be overlooked. Besides skin swellings, these patients might have very painful abdominal attacks and potentially life-threatening angio-oedema of the upper airway. They will not respond to traditional anti-allergic therapy with antihistamines, corticosteroids, and adrenaline, and instead need specific drugs targeting the kallikrein-kinin pathway. Classically, patients with HAE have a quantitative or qualitative deficiency of the C1 inhibitor (C1INH) due to different mutations in SERPING1, although a new subtype with normal C1INH has been recognised more recently. This latter variant is diagnosed based on clinical features, family history, or molecular genetic testing for mutations in F12, ANGPT1,or PLG.The diagnosis of HAE is often delayed due to a general unfamiliarity with this orphan disease. However, undiagnosed patients are at an increased risk of unnecessary surgical interventions or life-threatening laryngeal swellings. Within the last decade, new and effective therapies have been developed and launched for acute and prophylactic therapy. Even more drugs are under evaluation in clinical trials. It is therefore of utmost importance that patients with HAE are diagnosed as soon as possible and offered relevant therapy with orphan drugs to reduce morbidity, prevent mortality, and improve quality of life.

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“…Polymorphisms (UCSC Common SNPs) for which no disease associations are reported in the ClinVar database were excluded and pathogenicity of variants was predicted by bioinformatics analysis using SIFT and PolyPhen tools, in comparison to their global (1000 Genomes Global Minor Allele Frequency, ExAC) and European frequency (5000 Exomes European Minor Allele Frequency). Results: In 24/29 patients various heterozygous or homozygous genetic alterations of the analyzed genes were detected, alone (8) or in combination (16). These alterations represent either unreported or extremely rare variants some of which were bioinformatically predicted as deleterious.…”

Section: O-18mentioning

confidence: 99%

“…Due to the lack of family history in eight cases and the absence of the correct diagnosis in affected relatives in the other two cases, the molecular analysis of SERPING1 was decisive in the final diagnosis. Although most physicians do not appreciate the need of molecular sequencing in all cases of HAE [8], it is a special tool in difficult to diagnose HAE patients. It also allows genetic counselling and increases knowledge regarding the mutational spectrum of SERPING1.…”

Section: P-13 Early Versus Late Administration Of Icatibant In Patienmentioning

confidence: 99%

Abstracts from the 10th C1-inhibitor deficiency workshop

Schmaier

Cicardi²,

Reshef

et al. 2017

Allergy Asthma Clin Immunol

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Hereditary angioedema: Molecular and clinical differences among European populations

Cited by 69 publications

References 16 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 Angio-Oedema for Dermatologists

Abstracts from the 10th C1-inhibitor deficiency workshop

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