About this episode
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 [email protected]. 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.
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.
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