Autoinflammatorische Syndrome

Insbesondere durch die Anwendung der Next-Generation-Sequenzierung wurden in den letzten Jahren viele monogene autoinflammatorische Erkrankungen identifiziert [1]. Dieser enorme Wissenszuwachs trug wesentlich dazu bei, neue Krankheitsmechanismen zu verstehen und Krankheitsbilder klar zu definieren. Zudem ermöglichen diese Untersuchungen, Erkrankungen aufgrund gemeinsamer pathophysiologischer Mechanismen in Gruppen einzuordnen.

Abstract

In particular, the use of next-generation sequencing has led to the identification of many monogenic autoinflammatory diseases in recent years. This enormous increase in knowledge has contributed significantly to understanding new disease mechanisms and clearly defining clinical pictures. In addition, these studies make it possible to classify diseases into groups based on common pathophysiological mechanisms.

Kernaussagen

• Autoinflammatorische Erkrankungen sind seltene Krankheiten, die mit einem Risiko für schwere Morbidität, Mortalität und einer reduzierten gesundheitsbezogenen Lebensqualität einhergehen.

• Die zunehmende Zahl somatischer Mosaike und Varianten mit niedriger Penetranz erschwert die Diagnose dieser potenziell lebenslangen Erkrankungen.

• Ein standardisierter diagnostischer Ansatz bei Verdacht auf AIE sollte den klinischen Phänotyp, Entzündungsmarker sowie funktionelle und genetische Tests umfassen.

• AIE-Panels sollten durchgeführt und gegebenenfalls durch Whole Exome Sequencing (WES) oder Whole Genome Sequencing (WGS) ergänzt werden.

• Die Behandlung von AIE erfordert ein multidisziplinäres Team sowie psychosoziale Unterstützung.

• Die Medikation sollte individuell anhand von Treat-to-Target-Strategien angepasst werden. Bei IL-1-vermittelten AIE sind Colchicin und IL-1-Inhibitoren wirksam.

• Alternative Therapien, einschließlich IL-6-Hemmung und TNF-Blockade, können ebenfalls von Nutzen sein.

• Eine regelmäßige Zielüberprüfung sowie standardisierte Überwachung der Krankheitsaktivität und Organschädigung sind essenziell.

• Impfungen sollten gemäß den nationalen Impfempfehlungen erfolgen, wobei die allgemeinen Impfhinweise für Patienten mit rheumatischen Erkrankungen zu berücksichtigen sind.

Schlüsselwörter

CAPS - Autoinflammatorische Erkrankungen - TRAPS - familiäres Mittelmeerfieber - VEXAS-Syndrom - Genetische Untersuchung - Amyloidose - Monitoring

Keywords

CAPS - Autoinflammatory diseases - TRAPS - family Mediterranean fever - VEXAS syndrome - Genetic testing - amyloidosis - monitoring

Publication History

Article published online:
10 December 2025

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