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Hereditary angioedema in children: review and practical perspective for clinical management
  • +12
  • Anne Pagnier,
  • Angelina Dermesropian,
  • Charlotte KEVORKIAN-VERGUET,
  • Mélisande Bourgoin-Heck,
  • CYRILLE HOARAU,
  • Héloïse Reumaux,
  • Frédérique Nugues,
  • Christine Audouin-Pajot,
  • Sibylle Blanc,
  • Aurélia Carbasse,
  • Anne-Laure Jurquet,
  • Mélanie Voidey,
  • Mona Villedieu,
  • Laurence Bouillet,
  • Isabelle Boccon-Gibod
Anne Pagnier
Centre Hospitalier Universitaire Grenoble Alpes Pediatrie

Corresponding Author:[email protected]

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Angelina Dermesropian
Allée des Mitaillières bâtiment A l'Horloge 38240 Meylan
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Charlotte KEVORKIAN-VERGUET
Centre Hospitalier Universitaire Grenoble Alpes Pediatrie
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Mélisande Bourgoin-Heck
Armand Trousseau University Hospital
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CYRILLE HOARAU
Universite de Tours
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Héloïse Reumaux
Centre Hospitalier Universitaire de Lille Hopital Jeanne de Flandre
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Frédérique Nugues
Couple-child Hospital University hospital Grenoble
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Christine Audouin-Pajot
Hopital Purpan
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Sibylle Blanc
Hopitaux Pediatriques de Nice CHU-LENVAL
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Aurélia Carbasse
Hopital Arnaud de Villeneuve
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Anne-Laure Jurquet
Assistance Publique Hopitaux de Marseille
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Mélanie Voidey
Centre Hospitalier Universitaire de Besancon
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Mona Villedieu
Biocryst France SAS
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Laurence Bouillet
French national reference center for angioedema (CREAK
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Isabelle Boccon-Gibod
French National Reference Center for Angioedema (CREAK
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Abstract

Hereditary angioedema (HAE) is a rare, life-threatening genetic disorder characterized by acute, recurrent and unpredictable episodes of cutaneous or submucosal angioedema, mediated by bradykinin, due to C1 inhibitor (C1INH) abnormalities in the vast majority of cases. The epidemiology of the disease is poorly documented in children. Clinical manifestations usually appear during childhood or early adolescence. Classical signs, preceded by prodromal symptoms in 50 % of cases, include transient, localized, non-pitting, non-pruritic swelling of deep dermal/subcutaneous or mucosal/submucosal tissues, leading to oedema of the extremities, face, lips, tongue, trunk and genitals, recurring gastrointestinal symptoms and laryngeal edema possibly causing asphyxiation and death. Diagnosis is often delayed due to low awareness in the medical community, and particularly challenging in case of isolated abdominal crises or atypical presentation and in neonates or infants. It relies on biological tests (measurement of serum/plasma levels of C1INH function, C1INH protein, and C4), genetic testing in selected cases, and imaging for differential diagnosis of acute abdominal crises. Main differential diagnosis for peripheral oedema is mast cell-mediated oedema that accounts for 95 % of angioedema in clinical practice. Quality of life can be significantly impaired. Disease management includes treatment of attacks, short-term and long-term prophylaxis, psychological support, avoidance of triggers, patients’ and parents’ education and coordination of all stakeholders, ideally within a specialized healthcare network. New plasma kallikrein inhibitors, namely lanadelumab (subcutaneous route) and berotralstat (oral route) have facilitated long-term prophylaxis thanks to improved usability.
04 Jun 2024Submitted to Pediatric Allergy and Immunology
06 Jun 2024Submission Checks Completed
06 Jun 2024Assigned to Editor
02 Jul 2024Review(s) Completed, Editorial Evaluation Pending
30 Sep 20241st Revision Received
03 Oct 2024Assigned to Editor
03 Oct 2024Submission Checks Completed
03 Oct 2024Review(s) Completed, Editorial Evaluation Pending
04 Oct 2024Reviewer(s) Assigned
15 Oct 2024Editorial Decision: Accept