Cryopyrin-Associated Periodic Syndrome

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The cryopyrin-associated periodic syndrome ( CAPS ) is a group of currently three known genetic disorders . The inheritance is autosomal - dominant . CAPS include:

  • the familial cold urticaria ( familial cold urticaria , FCU), syn. familial autoinflammatory cold syndrome ( familial cold autoinflammatory syndrome called FCAS), also CAPS1
  • the Muckle-Wells syndrome called (MWS), also CAPS2
  • NOMID ( neonatal onset multisystem inflammatory disease ), syn. CINCA ( chronic infantile neurological cutaneous and articular syndrome ), also called CAPS3

All three diseases are autoinflammatory diseases . In contrast to autoimmune diseases , the cause of CAPS is not a specific reaction of the body's own immune system . In autoinflammatory diseases, increased amounts of the body's own inflammatory substances are produced, which cause inflammation in the body . But no recognizable external cause can be found for this.

Originally it was assumed that there were three different diseases. In fact, all three CAPS share the same genetic mutation and pathogenesis .

genetics

CAPS is caused by a mutation in the NLRP3 gene, which codes for the protein cryopyrin . Cryopyrin is a component of the interleukin-1β - inflammasome . The NLRP3 gene is located on chromosome 1 gene locus q44. Interleukin-1β (or IL-1β or IL-1B for short) belongs to the interleukin-1 family and is one of the cytokines that are counted among the inflammation mediators.

Symptoms

These diseases form a spectrum of diseases of increasing severity, with the mildest, moderate and severe manifestations being represented by FCAS, MWS and NOMID, respectively. Symptoms of CAPS include recurrent fevers, hives- like rashes, arthralgia and arthritis , amyloidosis , sensorineural hearing loss, and eye problems. Neurological problems can also arise with NOMID. These include severe headaches , increased intracranial pressure , chronic aseptic meningitis, and even mental retardation .

Therapy and prognosis

Regarding therapy and prognosis, please refer to the respective CAPS articles.

literature

  • EC Landmann, UA Walker: Pharmacological treatment options for cryopyrin-associated periodic syndromes. In: Expert review of clinical pharmacology. Volume 10, Number 8, August 2017, pp. 855-864, doi : 10.1080 / 17512433.2017.1338946 , PMID 28586272 (Review).
  • JB Kuemmerle-Deschner, S. Ozen u. a .: Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). In: Annals of the rheumatic diseases. Volume 76, number 6, June 2017, pp. 942-947, doi : 10.1136 / annrheumdis-2016-209686 , PMID 27707729 (review).
  • JB Kuemmerle-Deschner: CAPS pathogenesis, presentation and treatment of an autoinflammatory disease. In: Seminars in immunopathology. Volume 37, Number 4, July 2015, pp. 377-385, doi : 10.1007 / s00281-015-0491-7 , PMID 25963520 (review).
  • G. Sarrabay, S. Grandemange, I. Touitou: Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts. In: Expert review of clinical immunology. Volume 11, number 7, 2015, pp. 827-835, doi : 10.1586 / 1744666X.2015.1047765 , PMID 25979514 (review).
  • HM Hoffman, S. Rosengren, et al. a .: Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. In: Lancet. Volume 364, number 9447, 2004, pp. 1779–1785, doi : 10.1016 / S0140-6736 (04) 17401-1 , PMID 15541451 , PMC 4321997 (free full text).

Web links

Individual evidence

  1. ^ Familial Cold Autoinflammatory Syndrome 1.  In: Online Mendelian Inheritance in Man . (English).
  2. ↑ Muckle-Wells Syndrome.  In: Online Mendelian Inheritance in Man . (English).
  3. ↑ CINCA Syndrome.  In: Online Mendelian Inheritance in Man . (English).
  4. ↑ L. Campbell, I. Raheem et al. a .: The Relationship between NALP3 and Autoinflammatory Syndromes. In: International journal of molecular sciences. Volume 17, number 5, May 2016, p., Doi : 10.3390 / ijms17050725 , PMID 27187378 , PMC 4881547 (free full text) (review).