Hereditary angioedema: a disease seldom diagnosed by pediatricians

“…The low level of knowledge contributes to this delay, not only in diagnosis but also in proper treatment as well, leading to impairment in quality of life and increase in mortality. 10 , 11 …”

Section: Discussionmentioning

confidence: 99%

Are pediatricians familiar with hereditary angioedema?

Chong-Neto

Aroni

Mansour

et al. 2023

World Allergy Organization Journal

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“…Diagnosis is still delayed and about one third of the cases can take more than 10 years. 11 , 12 HAE attacks are painful, unpredictable, incapacitating, and typically demand immediate medical intervention. Face involvement leads to disfiguration and promotes social stigmatization, isolation, and depression.…”

Section: Introductionmentioning

confidence: 99%

A narrative review of recent literature of the quality of life in hereditary angioedema patients

Chong-Neto¹

2023

World Allergy Organization Journal

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“…HAE attacks can turn into a life-threatening episode if the edema develops in the laryngeal track, which leads to the obstruction of the upper respiratory airways ( 5 ). HAE attacks are unpredictable and often develop in response to triggering factors such as mental stress ( 6 ), use of contraception hormones ( 7 ), infections ( 8 ), injuries or surgery interventions ( 9 ), and weather changes ( 6 ), among others. HAE prevalence has been estimated in over 1:50,000 worldwide ( 10 ) and has been reported in all ethnic groups ( 11 ).…”

Section: Introductionmentioning

confidence: 99%

A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)

Mendoza-Alvarez

Tosco-Herrera²,

Muñoz-Barrera³

et al. 2022

Front. Immunol.

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Hereditary angioedema (HAE) is a rare disease where known causes involve C1 inhibitor dysfunction or dysregulation of the kinin cascade. The updated HAE management guidelines recommend performing genetic tests to reach a precise diagnosis. Unfortunately, genetic tests are still uncommon in the diagnosis routine. Here, we characterized for the first time the genetic causes of HAE in affected families from the Canary Islands (Spain). Whole-exome sequencing data was obtained from 41 affected patients and unaffected relatives from 29 unrelated families identified in the archipelago. The Hereditary Angioedema Database Annotation (HADA) tool was used for pathogenicity classification and causal variant prioritization among the genes known to cause HAE. Manual reclassification of prioritized variants was used in those families lacking known causal variants. We detected a total of eight different variants causing HAE in this patient series, affecting essentially SERPING1 and F12 genes, one of them being a novel SERPING1 variant (c.686-12A>G) with a predicted splicing effect which was reclassified as likely pathogenic in one family. Altogether, the diagnostic yield by assessing previously reported causal genes and considering variant reclassifications according to the American College of Medical Genetics guidelines reached 66.7% (95% Confidence Interval [CI]: 30.1-91.0) in families with more than one affected member and 10.0% (95% CI: 1.8-33.1) among cases without family information for the disease. Despite the genetic causes of many patients remain to be identified, our results reinforce the need of genetic tests as first-tier diagnostic tool in this disease, as recommended by the international WAO/EAACI guidelines for the management of HAE.

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Hereditary angioedema: a disease seldom diagnosed by pediatricians

Cited by 11 publications

References 40 publications

Are pediatricians familiar with hereditary angioedema?

Are pediatricians familiar with hereditary angioedema?

A narrative review of recent literature of the quality of life in hereditary angioedema patients

A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)

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