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Autoinflammatorische Syndrome und Amyloid-A-Amyloidose

Autoinflammatory syndromes and AA amyloidosis

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Zeitschrift für Rheumatologie Aims and scope Submit manuscript

Zusammenfassung

Autoinflammatorische Syndrome (AIS) sind charakterisiert durch gleichförmige Attacken mit häufigen Fieberepisoden, Exanthemen, Bauchschmerzen, Muskel- und Gelenkschmerzen. Während einer Attacke zeigen sich oft massiv erhöhte serologische Entzündungsparameter CRP (C-reaktives Protein) und SAA (Serumamyloid A). Die Herkunft der Familie der Patienten und die Dauer der Attacken sind bei der Diagnosestellung hilfreich. Molekulargenetische Untersuchungen werden zur Bestätigung der klinischen AIS-Diagnose eingesetzt. Colchicin kann die Attacken beim familiären Mittelmeerfieber, aber nicht bei den anderen AIS verhindern. In refraktären Fällen werden Anakinra oder Canakinumab zur Kontrolle der Entzündungsschübe eingesetzt. Die systemische AA(Amyloid A)-Amyloidose kann sich bei jeder unzureichend behandelten chronisch entzündlichen Erkrankung im Verlauf entwickeln. Die Nierenbeteiligung ist die vorherrschende initiale Organmanifestation, die durch eine frühzeitige Evaluation einer Proteinurie identifiziert werden kann. Falls die AA-Amyloidose frühzeitig diagnostiziert und erfolgreich therapiert wird, kann die Funktion der Nieren und der anderen Organe über viele Jahre anhaltend stabil bleiben. Bei Patienten mit einer fortgeschrittenen AA-Amyloidose ist eine dialysepflichtige Niereninsuffizienz häufig nicht mehr zu verhindern. Diese Patienten sollten behandelt werden, um eine Beteiligung von Magen, Darm und Herz zu verhindern.

Abstract

Autoinflammatory syndromes (AIS) are characterized by uniform attacks often with febrile episodes, exanthema, abdominal pain, muscle and joint pain. Patients show markedly elevated levels of the inflammatory serum parameters C‑reactive protein (CRP) and systemic amyloid A (SAA) during an attack. The origin of the family of the patient and the duration of the attacks are helpful to find the appropriate diagnosis. Molecular genetic tests are used to confirm the clinical diagnosis of an AIS. Colchicine can prevent attacks of familial Mediterranean fever but not the other forms of AIS. In refractory cases anakinra or canakinumab can be used to control the inflammatory exacerbations. Systemic AA amyloidosis can develop secondary to any insufficiently treated chronic inflammatory disease. Renal involvement is the predominant initial organ dysfunction, which can be detected early on by the evaluation of proteinuria. If AA amyloidosis can be diagnosed early and successfully treated, the renal function and the function of other organs can be preserved for many years. In patients with advanced AA amyloidosis renal failure with the subsequent necessity for dialysis can often no longer be prevented. These patients should be treated to prevent involvement of the stomach, intestines and heart.

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  1. Amyloidose-Zentrum, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Deutschland

    N. Blank & S. O. Schönland

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  1. N. Blank
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Correspondence to N. Blank.

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Interessenkonflikt

N. Blank erhielt Forschungsunterstützung von den Firmen SOBI und Novartis sowie Vortragshonorare und Unterstützung für Kongressteilnahmen von SOBI, Novartis, Roche, MSD, Abbott, Pfizer, Boehringer-Ingelheim, Actelion und UCB. S.O. Schönland erhielt Forschungsunterstützung von Sanofi und Janssen sowie Unterstützung für Kongressteilnahmen von Medac, Sanofi und Takeda.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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N. Blank, Heidelberg

H.-I. Huppertz, Bremen

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Blank, N., Schönland, S.O. Autoinflammatorische Syndrome und Amyloid-A-Amyloidose. Z Rheumatol 79, 649–659 (2020). https://doi.org/10.1007/s00393-020-00778-3

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