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Healio Rheuminations

all CAPS: A Story of Ice and Fire - Part 1

Nov 7, 2019
31:47

This first episode delves into the clinical aspects of the Cryopyrin-Associated Periodic Syndromes and includes some helpful tips for sorting out some of the autoinflammatory diseases in the spectrum.

  • Intro :10
  • Cryopyrin-Associated Periodic Syndromes (CAPS) :25
  • Outline of Part 1 2:25
  • What is CAPS? 3:12
  • Case #1 – a 25-year-old female with urticaria after cold exposure 4:25
  • Case #2 – a 55-year-old female with progressive deafness 5:45
  • The index case of familial cold autoinflammatory syndrome 9:00
  • The final disease in the spectrum 11:00
  • A lot of names for the same disease 13:50
  • Genetics prove these three diseases are in the same spectrum 14:22
  • Over 100 mutations have been found to-date 16:31
  • Let’s talk about mosaicism 17:03
  • Disease characteristics of CAPS 18:15
    • Neutrophilic infiltrate in chronic urticaria vs. CAPS 20:00
    • Schnitzler syndrome 20:45
    • Sensorineural hearing loss 21:58
    • Joint pain 24:10
  • Complication: Amyloidosis 25:29
  • These diseases were very debilitating 28:38
  • Episode recap 29:46
  • Part 2 sneak peek 30:38
  • Come say hi at ACR! 30:51

We’d love to hear from you! Send your comments/questions to rheuminationspodcast@healio.com. Follow us on Twitter @HRheuminations @AdamJBrownMD @HealioRheum

References:

Ahmadi N, et al. Otolaryngol Head Neck Surg. 2011;145:295-302.​

Aksentijevich I, et al. Arthritis Rheum. 2002;46:3340-3348.

Alecu M, et al. Romanian Journal of Morphology and Embryology = Revue Roumaine de Morphologie et Embryologie. 2015;56:7-14.

Hassink SG, Goldsmith DP. Arthritis Rheum. 1983;26:668–673.

Hoffman HM, et al. Nat Genet. 2001;29:301-305.​

Hoffman HM, et al. J Allergy Clin Immunol. 2001;108:615-620.

Kile RM, Rusk HA. JAMA. 1940;114:1067-1068.

Levy R, et al. Ann Rheum Dis. 2015;74:2043-2049.

Marzano AV, et al. Clin Exp Rheumatol. 2018;36 Suppl 110:32-38.

Muckle TJ, Wells M. Q J Med. 1962;31:235-248.

Prieur AM, Griscelli C. Rev Rhum Mal Osteoartic. 1980;47:645–649.

Tran TA. Open Access Rheumatol. 2017;9:123-129.

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