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Morbus Erdheim-Chester

Eine wichtige Differenzialdiagnose und ihre Leitsymptome

Erdheim-Chester disease

An important differential diagnosis and its main symptoms

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Zusammenfassung

Hintergrund

Innerhalb der letzten 3 Jahre stellten sich 4 Patienten mit unterschiedlichsten Symptomen zur weiteren Abklärung vor, bei denen nach verschiedenen diagnostischen Umwegen ein Morbus Erdheim-Chester (ECD) diagnostiziert wurde.

Ziel der Arbeit

Anhand von 4 klinischen Fällen und ausgewählter Fachliteratur soll das Erscheinungsbild des Morbus Erdheim-Chester dargestellt werden. Ebenfalls sollen Ähnlichkeiten und Unterschiede der Symptome im Vergleich zu wichtigen rheumatologischen Differenzialdiagnosen dargestellt werden.

Ergebnisse

Morbus Erdheim-Chester ist eine seltene Erkrankung mit unterschiedlichen Organbeteiligungen. Typisch sind eine Knochenbeteiligung v. a. der langen Röhrenknochen, eine periarterielle Entzündung insbesondere der Aorta, retroperitoneale und perirenale Fibrose mit sog. „hairy kidneys“ im CT. Die Therapie richtet sich zunehmend nach Vorhandensein einer BRAF-Mutation, die eine gezielte und effektive Therapie mit BRAF-Inhibitoren ermöglicht.

Diskussion

Der Morbus Erdheim-Chester stellt eine seltene Differenzialdiagnose zu rheumatologischen Erkrankungen dar, die mit verschiedensten Symptomen verbunden ist. Eine Abklärung mittels bildgebender Verfahren und Biopsiegewinnung ermöglicht eine genaue Diagnose sowie eine gezielte und wirksame Therapie.

Abstract

Background

During the last 3 years 4 patients were admitted to this hospital with a wide variety of different symptoms, in whom Erdheim-Chester disease (ECD) was diagnosed via different diagnostic pathways.

Objective

Based on four clinical cases of ECD and using additional information from the literature, this article presents the symptoms of ECD. Furthermore, similarities and differences in comparison to important rheumatological differential diagnoses are presented.

Results

The ECD is a multi-organ orphan disease. Typical for the disease are long bone involvement, periarterial inflammation especially of the aorta, retroperitoneal and perirenal fibrosis with so-called hairy kidneys in abdominal computed tomography (CT) scans. Treatment is increasingly directed towards the presence of a BRAF mutation, which enables targeted and effective treatment with BRAF inhibitors.

Conclusion

The ECD is a rare differential diagnosis to rheumatic diseases that causes various and often nonspecific symptoms. Due to modern diagnostic methods with imaging procedures and biopsies it is possible to establish a precise diagnosis and provide a targeted and effective treatment.

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Correspondence to J. Knitza.

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Interessenkonflikt

J. Knitza, E. Kampylafka, J. Wacker, G. Schett und B. Manger geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren. Für Bildmaterial oder anderweitige Angaben innerhalb des Manuskripts, über die Patienten zu identifizieren sind, liegt von ihnen und/oder ihren gesetzlichen Vertretern eine schriftliche Einwilligung vor.

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Redaktion

F. Moosig, Neumünster

M.O. Becker, Zürich

A. Hueber, Bamberg

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Knitza, J., Kampylafka, E., Wacker, J. et al. Morbus Erdheim-Chester. Z Rheumatol 78, 66–71 (2019). https://doi.org/10.1007/s00393-018-0566-7

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  • DOI: https://doi.org/10.1007/s00393-018-0566-7

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