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Periodische Fiebersyndrome/autoinflammatorische Syndrome

Periodic fever syndrome/autoinflammatory syndrome

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Zusammenfassung

Hereditäre periodische Fiebersyndrome (autoinflammatorische Syndrome) zeichnen sich meist durch rezidivierende Fieberschübe, die mit Manifestationen z. B. an Haut, Schleimhäuten, serösen Häuten und Gelenken einhergehen, aus. Einige Krankheitsbilder gehen nur mit serologischen Entzündungszeichen ohne Fieber, aber mit anderen klinischen Manifestationen einher (z. B. PAPA- und Blau-Syndrom). Es besteht in der Regel eine ausgeprägte serologische Entzündungskonstellation mit Erhöhung des Serum-Amyloid A (erhöhtes Amyloidoserisiko). Es gibt monogene Erkrankungen, bei denen Vererbungsmodus und Genmutation bekannt sind, aber auch vermutlich polygene Erkrankungen, mit Symptomen wie bei klassischen autoinflammatorischen Syndromen. Bei den monogenen Erkrankungen (FMF, TRAPS, HIDS, CAPS, pyogene Arthritis, Akne, PAPA- und Blau-Syndrom) sind Mutationen in Genen beschrieben, die zu einer vermehrten Produktion von IL-1β führen. Therapeutisch kommt vor allem der IL-1-Rezeptorantagonist Anakinra zum Einsatz, bei TRAPS und Blau-Syndrom auch TNF-Antagonisten. Als mögliche autoinflammatorische Erkrankungen werden auch das PFAPA-Syndrom, das Schnitzler-Syndrom, der M. Still im Kindes- und Erwachsenenalter, der M. Behçet und der M. Crohn erwähnt.

Abstract

Hereditary periodic fever syndromes (autoinflammatory syndromes) are characterised by relapsing fevers and additional manifestations such as skin rashes, mucosal manifestations, and joint pain. Some of these disorders only present with organ manifestations and serological signs of inflammation without obvious fever (e.g. PAPA and Blau syndrome). There is a strong serological inflammatory response with an elevation of serum amyloid A (risk of secondary amyloidosis). There are monogenic disorders for which the mode of inheritance and gene mutation are known, but probably also polygenic diseases which present with similar symptoms to the classic autoinflammatory syndromes. Gene mutations have been described for the monogenic disorders (FMF, HIDS, CAPS, PAPA and Blau syndrome), which lead to an induction of the production of IL-1ß. Therapeutically, the IL-1-receptor antagonist anakinra is mainly used. In the case of TRAPS and Blau syndrome, TNF antagonists may also be used. PFAPA syndrome, the Schnitzler syndrome, Still’s disease of adult and pediatric onset, Behçet’s disaese and Crohn’s disease also are mentioned as additional possible autoinflammatory syndromes.

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  1. Abteilung II (Onkologie, Hämatologie, Immunologie, Rheumatologie, Pulmologie), Medizinische Universitätsklinik Tübingen, Otfried-Müller-Str. 10, 72076, Tübingen, Deutschland

    I. Kötter &  J. Schedel

  2. Abteilung I (Allgemeine Pädiatrie, Hämatologie und Onkologie), Medizinische Universitätsklinik Tübingen, Tübingen, Deutschland

    J.B. Kümmerle-Deschner

  3. Interdisziplinäres Zentrum für Immunologie, Rheumatologie und Autoimmunerkrankungen (INDIRA), Medizinische Universitätsklinik Tübingen, Tübingen, Deutschland

    I. Kötter,  J. Schedel & J.B. Kümmerle-Deschner

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  1. I. Kötter
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  2. J. Schedel
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Kötter, I., Schedel, J. & Kümmerle-Deschner, J. Periodische Fiebersyndrome/autoinflammatorische Syndrome. Z. Rheumatol. 68, 137–149 (2009). https://doi.org/10.1007/s00393-009-0449-z

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