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Z Gastroenterol 2025; 63(02): 155-168
DOI: 10.1055/a-2468-5553
Übersicht

Gastrointestinale Erscheinungsformen der systemischen Mastzellaktivierungserkrankung – Eine praxisorientierte Einführung in Klinik, Diagnostik und Therapie

Gastrointestinal manifestations of systemic mast cell activation disease – A practice-oriented guide to clinical picture, diagnostics and therapy
Martin Raithel
1   Waldkrankenhaus St. Marien, Erlangen, Germany
,
Jürgen Homann
2   Division of Internal Medicine, Gemeinschaftskrankenhaus Bonn, Bonn, Germany
,
Ralf J. Rieker
3   Pathologisches Institut, Erlangen University Hospital, Erlangen, Germany (Ringgold ID: RIN27168)
,
Gerhard J. Molderings 
4   Institute of Human Genetics, University of Bonn, Bonn, Germany
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Zusammenfassung

Bei der systemischen Mastzellaktivierungserkrankung (MCAD) handelt es sich um eine epigenetisch und genetisch bedingte Krankheitsentität mit sehr ausgeprägtem Krankheitsbild in vielfältigen klinischen Manifestationen in potenziell jedem Organ und Gewebe aufgrund unangemessener Freisetzung von Mastzellbotenstoffen zusammen mit der Anhäufung von sowohl morphologisch normalen und mutierten Mastzellen. Die Prävalenz der Erkrankung beträgt in Deutschland 17%, sodass Gastroenterologen und Endoskopiker im klinischen Alltag häufig unwissentlich mit einer MCAD konfrontiert werden. Darüber hinaus sind gastroenterologische Untersuchungen ein wesentlicher Bestandteil in der Diagnostik der MCAD. Daher ist es für jeden gastroenterologisch tätigen Arzt unabdingbar, über Grundkenntnisse dieser Erkrankung zu verfügen und insbesondere über deren Problematik auf dem gastroenterologischen Gebiet informiert zu sein. Diese Übersicht fasst den aktuellen Wissensstand zu Ursachen, Diagnostik und Therapie der hochkomplexen MCAD auf die gastroenterologischen Aspekte fokussiert zusammen.

Abstract

Systemic mast cell activation disease (MCAD) is an epigenetic and genetic disease entity with a very pronounced clinical symptomatology in a variety of clinical manifestations in potentially every organ and tissue due to inappropriate release of mast cell mediators accompanied with the accumulation of both morphologically normal and mutated mast cells. Due to the prevalence of the disease of 17% in Germany, gastroenterologists and endoscopists are often unknowingly faced with MCAD in everyday clinical practice. In addition, gastroenterological examinations are an essential part of the diagnosis of MCAD. It is therefore essential for every physician working in gastroenterology to possess basic knowledge of this disease and, in particular, to be informed about its problems in the field of gastroenterology. This overview summarizes the current state of knowledge on the causes, diagnosis and treatment of the highly complex MCAD, focusing on the gastroenterological aspects.

Schlüsselwörter

Systemische Mastzellaktivierungserkrankung - systemische Mastozytose - systemisches Mastzellaktivierungssyndrom - Mastzellmediatorfreisetzungssyndrom - Tryptase depletion index - Differentialdiagnosen

Keywords

Systemic mast cell activation disease - systemic mastocytosis - systemic mast cell activation syndrome - mast cell mediator release syndrome - tryptase depletion index - differential diagnoses


Publication History

Received: 07 September 2024

Accepted after revision: 07 November 2024

Article published online:
03 January 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

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