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Systemische Mastozytose mit starkem Befall des Gastrointestinaltrakts

Ein klinisch nicht fassbares und morphologisch bislang nicht klar definiertes Krankheitsbild

Systemic mastocytosis involving mucosa of the gastrointestinal tract

A clinically intangible and as yet morphologically obscure syndrome

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  • 2 Citations

Zusammenfassung

Mastozytosen sind klonale Erkrankungen der hämopoetischen Stammzelle und müssen streng von einer reaktiven Vermehrung der Mastzellen (= Mastzellenhyperplasie) abgegrenzt werden. Zwei grundsätzliche Erscheinungsformen der Mastozytose werden unterschieden: zum einen die kutane, zum anderen die systemische Mastozytose. Bei den meisten Patienten mit Mastozytose ist die Prognose quoad vitam sehr günstig, aggressive oder leukämische Varianten der Mastozytose sind Raritäten. Die Diagnose einer systemischen Mastozytose ist nur histomorphologisch durch den Pathologen möglich und kann niemals allein klinisch gestellt werden! Im Rahmen der systemischen Mastozytose treten bei vielen Patienten abdominelle Beschwerden auf, ohne dass ein Befall der Schleimhaut des Gastrointestinaltrakts morphologisch gesichert werden kann. Im Folgenden berichten wir über den ungewöhnlichen Befund einer systemischen Mastozytose mit starkem Schleimhautbefall in Dünn- und Dickdarm als morphologischem Zufallsbefund bei einer asymptomatischen Patientin nach Vorsorgeendoskopie. Dieser Fall gibt auch Anlass, die morphologischen Kriterien einer Mastozytose mit Schleimhautbefall noch einmal klar herauszuarbeiten, speziell um die sehr viel häufigere Mastzellenhyperplasie hiervon sicher abgrenzen zu können.

Abstract

Mastocytosis is a clonal disease of haemopoietic bone marrow-derived progenitor cells with an extremely broad spectrum of clinical and histomorphological features. Principally, two major subvariants are distinguished: cutaneous and systemic mastocytosis. Most patients with mastocytosis have a normal life expectancy. Aggressive or leukaemic variants of systemic mastocytosis are very rare. The diagnosis of mastocytosis can only be established by the pathologist and is not allowed to be made on the basis of clinical findings alone. Many patients with systemic mastocytosis complain of non-specific mediator-associated abdominal symptoms (epigastric pain, diarrhoea, etc.) without morphological evidence of involvement of the mucosa of the gastrointestinal (GI) tract. We here report on the extremely unusual case of a woman without any symptoms but systemic mastocytosis with marked involvement of the GI tract mucosa was detected after prophylactic endoscopy. Morphological criteria for the diagnosis of mastocytosis are delineated with special emphasis on the clear differentiation from the much more common reactive mast cell hyperplasia.

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Correspondence to Prof. Dr. H.-P. Horny.

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Horny, H., Berndt, R., Sotlar, K. et al. Systemische Mastozytose mit starkem Befall des Gastrointestinaltrakts. Gastroenterologe 3, 519 (2008). https://doi.org/10.1007/s11377-008-0233-7

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Schlüsselwörter

  • Mastozytose
  • KITD816V
  • Gastrointestinum
  • Mastzellenhyperplasie
  • Tryptase

Keywords

  • Mastocytosis
  • KITD816V
  • Gastrointestinal tract
  • Mast cell hyperplasia
  • Tryptase