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Laurence Bouillet1, Frederica Defendi2, Gaelle Hardy3

  • 1Université Grenoble Alpes (UGA), service de médecine interne, CHUGA, unité Inserm 1036, Grenoble, France; Centre de référence national des angioedèmes (CREAK), 38043 Grenoble, France.

Presse Medicale (Paris, France : 1983)
|November 13, 2018
PubMed

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Summary
This summary is machine-generated.

Diagnosing bradykinin-mediated angioedema (BK-AE) involves assessing C1 Inhibitor (C1Inh) levels. Genetic testing aids in differentiating hereditary from acquired forms of BK-AE.

Area of Science:

  • Immunology
  • Genetics
  • Allergy and Immunology

Background:

  • Bradykinin-mediated angioedema (BK-AE) presents with C1 Inhibitor deficiency (hereditary/acquired) or normal C1 Inhibitor (hereditary/drug-induced).
  • High clinical suspicion necessitates initial C1 Inhibitor assessment, including function, antigenemia, and C4 concentration.

Purpose of the Study:

  • To outline diagnostic strategies for bradykinin-mediated angioedema.
  • To differentiate between hereditary and acquired C1 Inhibitor deficiency.
  • To guide genetic testing for suspected hereditary angioedema.

Main Methods:

  • Assessing C1 Inhibitor function, antigenemia, and C4 concentration.
  • Utilizing C1q and anti-C1 Inhibitor antibody tests for acquired BK-AE.
  • Performing SERPING1 gene screening for hereditary angioedema and F12/PLG gene screening for hereditary BK-AE with normal C1 Inhibitor.

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Main Results:

  • C1 Inhibitor deficiency is confirmed if tests fall below 50% of normal values and are re-verified.
  • C1q and anti-C1 Inhibitor antibody tests help identify acquired BK-AE.
  • SERPING1 gene mutations account for 15% of hereditary angioedema cases, including de novo mutations.

Conclusions:

  • Initial C1 Inhibitor evaluation is crucial for suspected BK-AE.
  • Distinguishing hereditary from acquired forms requires specific serological and genetic markers.
  • Targeted gene screening (SERPING1, F12, PLG) is essential for diagnosing hereditary angioedema subtypes.