Dtsch Med Wochenschr 2017; 142(13): 969-978
DOI: 10.1055/s-0043-103468
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© Georg Thieme Verlag KG Stuttgart · New York

Autoinflammatorische Erkrankungen als Differenzialdiagnose des Fiebers unklarer Genese

Autoinflammatory Diseases as a Differential Diagnosis of Fever of Unknown Origin
Jasmin Beate Kümmerle-Deschner
Further Information

Publication History

Publication Date:
03 July 2017 (online)

Abstract

Fever is the most leading symptom of autoinflammatory diseases (AID). Therefore, AID have to be considered in differential diagnosis concerning fever of unknown origin. Unspecific Inflammatory manifestations may lead to misinterpretations that possibly cause irreversible organ damage. Effective treatment options are available and imply profound diagnostics.

Autoinflammatorische Erkrankungen (AID) gehören zu den seltenen Erkrankungen. Sie gehen häufig mit Fieber einher und sind deshalb bei der Differenzialdiagnose des Fiebers unklarer Genese zu berücksichtigen. Begleitende unspezifische Entzündungsmanifestationen können allerdings zu Fehlinterpretationen führen – mit möglicherweise fatalen Folgen. Denn bleiben effektive Behandlungsmaßnahmen der AID aus, drohen irreversible Organschäden.

 
  • Literatur

  • 1 Bundesministerium für Gesundheit. Im Internet: http://www.bundesgesundheitsministerium.de/themen/praevention/gesundheitsgefahren/seltene-erkrankungen.html Stand 31.3.2017
  • 2 Lachmann HJ. Papa R. Gerhold K. et al. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Ann Rheum Dis 2014; 73: 2160-2167
  • 3 Toplak N. Frenkel J. Ozen S. et al. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis 2012; 71: 1177-1182
  • 4 Masters SL. Simon A. Aksentijevich I. et al. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol 2009; 27: 621-668
  • 5 Zen M. Gatto M. Domeneghetti M. et al. Clinical guidelines and definitions of autoinflammatory diseases: contrasts and comparisons with autoimmunity-a comprehensive review. Clin Rev Allergy Immunol 2013; 45: 227-235
  • 6 Holzinger D. Kessel C. Omenetti A. et al. From bench to bedside and back again: translational research in autoinflammation. Nat Rev Rheumatol 2015; 11: 573-585
  • 7 Ben-Chetrit E. Familial Mediterranean fever (FMF) and renal AA amyloidosis--phenotype-genotype correlation, treatment and prognosis. J Nephrol 2003; 16: 431-434
  • 8 Shinar Y. Obici L. Aksentijevich I. et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis 2012; 71: 1599-1605
  • 9 Demirkaya E. Saglam C. Turker T. et al. Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry. J Rheumatol 2016; 43: 154-160
  • 10 Kuemmerle-Deschner JB. Ozen S. Tyrrell PN. et al. Development and Validation of Diagnostic Criteria for Cryopyrin Associated Periodic Syndromes. Arthritis Rheum 2015; 67: 3707
  • 11 Federici S. Sormani MP. Ozen S. et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis 2015; 74: 799-805
  • 12 Marshall GS. Edwards KM. Butler J. et al. Syndrome of periodic fever, pharyngitis and aphthous stomatitis. J Pediatr 1987; 110: 43-46
  • 13 Stojanov S. Lapidus S. Chitkara P. et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci U S A 2011; 108: 7148-7153
  • 14 Broderick L. Kastner D. Hoffman H. Recurrent fever syndromes. In: Ochs H. Smith C. Puck J. Hrsg. Primary immunodeficiency diseases: a molecular and genetic approach. 3. Aufl. New York: Oxford University Press; 2013: 414-417
  • 15 Ter Haar NM. Oswald M. Jeyaratnam J. et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis 2015; 74: 1636-1644
  • 16 Ozen S. Demirkaya E. Erer B. et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 2016; 75: 644-651
  • 17 Broderick L. De Nardo D. Franklin BS. et al. The inflammasomes and autoinflammatory syndromes. Annu Rev Pathol 2015; 10: 395-424
  • 18 Jesus AA. Goldbach-Mansky R. IL-1 blockade in autoinflammatory syndromes. Annu Rev Med 2014; 65: 223-244
  • 19 Hentgen V. Grateau G. Kone-Paut I. et al. Evidence-based recommendations for the practical management of Familial Mediterranean Fever. Semin Arthritis Rheum 2013; 43: 387-391
  • 20 Piram M. Frenkel J. Gattorno M. et al. A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference. Ann Rheum Dis 2011; 70: 309-314