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Die systemische Mastozytose – Standortbestimmung einer internistischen Erkrankung

Systemic Mastocytosis – Definition of an Internal Disease

Medizinische Klinik volume 105, pages 544–553 (2010)Cite this article

Zusammenfassung

Die systemische Mastozytose ist eine Erkrankung, bei der sich genetisch krankhaft veränderte Mastzellen aufgrund einer erhöhten Proliferationsrate und verminderten Apoptose in allen Organen und Geweben anreichern können. Über eine unkontrollierte Freisetzung der Mastzellmediatoren können Organfunktionen sehr effektiv beeinflusst und systemische Effekte ausgelöst werden, ohne dass in den routinemäßig untersuchten Laborparametern und bildgebenden Verfahren wesentliche pathologische Veränderungen auffällig werden. Mit wenig invasiven Untersuchungsverfahren können in den meisten Fällen die Diagnose klinisch gesichert und eine erkrankungsgerechte Therapie eingeleitet werden. Diese Therapie besteht aus einer antihistaminischen und mastzellmembranstabilisierenden Basismedikation, die bei unzureichender Symptomkontrolle um eine symptomorientierte Bedarfsmedikation ergänzt werden sollte. Wegen der vermutlich hohen Prävalenz der Erkrankung sollte insbesondere bei chronischen unspezifischen gastrointestinalen Beschwerden in Form von krampfartigen und/oder brennenden Schmerzen mit oder ohne eine begleitende Diarrhö die systemische Mastozytose frühzeitig in die differentialdiagnostischen Überlegungen einbezogen werden.

Abstract

Systemic mastocytosis comprises disorders characterized by an accumula tion of genetically altered mast cells in all organs and tissues due to an increased proliferation rate and reduced apoptosis of those pathologic mast cells. Release of their mediators can effectively influence organ function and can lead to systemic effects without inducing traces in routinely used laboratory parameters or imaging methods. In most cases, little invasive investigations allow diagnosing the disease and, hence, an appropriate therapy consisting of a basic medication with antihistamine and mast cell membrane-stabilizing compounds that should be supplemented, if required, by a medication adapted to individual symptoms, can be initiated. Because of the probably high prevalence of the disorder, systemic mastocytosis should be considered as a differential diagnosis in particular in the case of chronic gastrointestinal complaints such as abdominal pain/discomfort possibly associated with diarrhea, at an early stage.

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Authors and Affiliations

  1. Abteilung für Innere Medizin, Evangelisches Waldkrankenhaus, Bonn, Germany

    Jürgen Homann, Ulrich W. Kolck & Andreas Ehnes

  2. Medizinische Klinik II, HELIOS Klinikum Krefeld, Krefeld, Germany

    Thomas Frieling

  3. Medizinische Klinik 1, Universitätsklinikum Erlangen, Erlangen, Germany

    Martin Raithel

  4. Institut für Humangenetik, Universitätsklinikum Bonn, Bonn, Germany

    Gerhard J. Molderings

  5. Institut für Humangenetik, Universitätsklinikum Bonn, Sigmund-Freud-Straße 25, 53127, Bonn, Germany

    Gerhard J. Molderings

Authors
  1. Jürgen Homann
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  2. Ulrich W. Kolck
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  3. Andreas Ehnes
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  4. Thomas Frieling
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  5. Martin Raithel
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  6. Gerhard J. Molderings
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Correspondence to Gerhard J. Molderings.

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Homann, J., Kolck, U.W., Ehnes, A. et al. Die systemische Mastozytose – Standortbestimmung einer internistischen Erkrankung. Med Klin 105, 544–553 (2010). https://doi.org/10.1007/s00063-010-1093-8

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  • DOI: https://doi.org/10.1007/s00063-010-1093-8

Schlüsselwörter:

  • Systemische Mastozytose
  • Mastzellmediatorsyndrom
  • Diagnostik
  • Therapie
  • Tyrosinkinase Kit
  • Reizdarmsyndrom

Key Words:

  • Systemic mastocytosis
  • Mast cell mediator release syndrome
  • Diagnostics
  • Therapy
  • Tyrosine kinase Kit
  • Irritable bowel syndrome