Diagnostyka wrodzonego obrzȩku naczynioruchowego

Translated title of the contribution: Diagnosis of hereditary angioedema

Kinga Viktória Koőhalmi, L. Cervenák, H. Farkas

Research output: Contribution to journalArticle

Abstract

Hereditary angioedema (HAE) is a rare disorder characterized by acute episodes of edema formation in the subcutis and/or the submucosa. The clinical picture of the disease resembles that of histamine-mediated angioedema, nevertheless bradykinin release is involved in the pathomechanism of HAE. The diagnosis of HAE can be established from the clinical manifestations, the family history, as well as the findings of complement and genetic tests. Currently, the six types of hereditary angioedema are distinguished: types I and II of hereditary angioedema with C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) and the following types of hereditary angioedema with normal C1-INH levels: hereditary angioedema caused by a mutation in the Factor XII gene (FXII-HAE), the angiopoietin-1 gene (ANGPT1-HAE), and the plasminogen gene (PLG-HAE) - and hereditary angioedema of unknown origin (U-HAE). Current options for the laboratory diagnosis of angioedemas include means for identifying C1-INH-HAE, FXII-HAE, ANGPT1-HAE, PLG-HAE and acquired angioedema with C1-INH deficiency (C1-INH-AAE). No laboratory method is available currently for diagnosing the other types of angioedemas such as idiopathic histaminergic acquired angioedema (IH-AAE), idiopathic non-histaminergic acquired angioedema (InH-AAE), acquired angioedema related to angiotensin-converting enzyme inhibitor (ACEI-AAE), and U-HAE. These disease types can be identified only by indirect methods, i.e. by exploring medical and family history, observing the clinical manifestations and the therapeutic response, as well as by excluding the presence of C1-INH deficiency, FXII-HAE, ANGPT1-HAE, and PLG-HAE.

Original languagePolish
Pages (from-to)168-174
Number of pages7
JournalAlergia Astma Immunologia
Volume23
Issue number4
Publication statusPublished - Dec 1 2018

Fingerprint

Hereditary Angioedemas
Angioedema
Hereditary Angioedema Types I and II
Medical History Taking

Keywords

  • Bradykinin
  • C1-inhibitor
  • Complement testing
  • Diagnosis
  • Genetic testing
  • Hereditary angioedema

ASJC Scopus subject areas

  • Immunology and Allergy
  • Pulmonary and Respiratory Medicine

Cite this

Diagnostyka wrodzonego obrzȩku naczynioruchowego. / Koőhalmi, Kinga Viktória; Cervenák, L.; Farkas, H.

In: Alergia Astma Immunologia, Vol. 23, No. 4, 01.12.2018, p. 168-174.

Research output: Contribution to journalArticle

Koőhalmi, Kinga Viktória ; Cervenák, L. ; Farkas, H. / Diagnostyka wrodzonego obrzȩku naczynioruchowego. In: Alergia Astma Immunologia. 2018 ; Vol. 23, No. 4. pp. 168-174.
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