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Successful allogeneic cord blood transplantation in a patient with Evans syndrome leads to correction of hereditary angioedema type I as secondary effect

Bone Marrow Transplantation volume 47, pages 1259–1261 (2012)Cite this article

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Hereditary angioedema (HAE) is a rare disease of autosomal dominant inheritance (1 in 50 000 individuals). Episodic swelling involving the airway can become a potentially life-threatening situation. Attacks are characterized by episodic, local swelling of the submucosal, dermal or s.c. tissue that most often involve the hands and feet and occasionally also the genitalia, trunk, face and upper airway. HAE usually begins in childhood and may become more severe after puberty.1

HAE is subdivided into two classic different types I and II, which involve mutations in the SERPING1 (C1-INH) gene, encoding the C1 esterase inhibitor protein. The different types lead to a particular genetic pathology but share a common final pathway involving bradykinin generation. Accurate diagnoses can be made by assessing complement levels and gene screening. HAE-associated C1-INH gene mutations in one of the two copies can impair protein synthesis (HAE type I, low antigenic and functional C1-INH plasma levels) or function (HAE type II, normal or elevated plasma levels of C1-INH Ag, but low C1-INH function). The generation of the vasoactive kinin peptide, bradykinin, cannot be controlled by C1-INH any longer and is episodically released locally leading to angioedema. In addition to C1 inhibitor concentrate, a bradykinin receptor inhibitor, icatibant (Firazyr, Jerini AG, Berlin, Germany), can be administered as treatment of the attack and as short-term prophylaxis before a surgical procedure. For long-term prophylaxis, anabolic androgens and antifibrinolytics are suggested, the latter are the treatment of choice for pediatric patients.2

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Authors and Affiliations

  1. Division of Molecular Dermatology, Department of Dermatology, Paracelsus Medical University, Salzburg, Austria

    A Klausegger & J W Bauer

  2. Department of Dermatology and Venerology, Medical University, Graz, Austria

    M Wiednig, H Reiter & W Aberer

  3. Division of Pediatric Hematology/Oncology, Department of Pediatrics and Adolescent Medicine, Medical University, Graz, Austria

    C Urban & H Lackner

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  1. A Klausegger
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  2. M Wiednig
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  4. H Lackner
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  5. H Reiter
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  6. J W Bauer
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  7. W Aberer
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Correspondence to A Klausegger.

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Klausegger, A., Wiednig, M., Urban, C. et al. Successful allogeneic cord blood transplantation in a patient with Evans syndrome leads to correction of hereditary angioedema type I as secondary effect. Bone Marrow Transplant 47, 1259–1261 (2012). https://doi.org/10.1038/bmt.2012.7

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