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

11/07/19 • 31 min

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.

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.

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.

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.

Previous Episode

The Inflammasome for Dunces

A quick take on one of the little-appreciated engines of the innate immune system.

Intro :10
A little about this episode :25
The inflammasome is a component of the innate immune system 3:12
Remember NLRP3 4:12
The toll-like receptors 5:05
Triggering the inflammasome 7:05
The proteins 8:04
A medieval battle and a trebuchet 9:56
A disclosure 17:00
I hope you enjoyed this episode 18:06

We’d love to hear from you! Send your comments/questions to [email protected]. Follow us on Twitter @HRheuminations @AdamJBrownMD @HealioRheum

References:

Booshehri LM, Hoffman HM. J Clin Immunol. 2019;39:277-286.

Hasudungan A. Immunology – NOD like receptors and the inflammasome [Video]. YouTube. https://www.youtube.com/watch?v=biunM2iD8qM&t=4s. Published March 29, 2015. Accessed September 4, 2019.

Next Episode

all CAPS: A Story of Ice and Fire - Part 2

Things get a little nerdy in this episode, which focuses on the basic science of what makes the inflammasome tick in CAPS, as well as data on the use of interleukin 1 inhibition. Hint: Listen to “The Inflammasome for Dunces” episode first, and this one will make more sense.

Intro :20
Recap of Part 1 :33
Overview of this episode 1:56
Familial cold autoinflammatory syndrome 3:04
Muckle-Wells syndrome 6:34
The two checkpoint problem 8:36
What do we know about the inhibition of the inflammasome? 11:13
Back to the trebuchet analogy 11:48

Brought to you by GSK. Considering a treatment change for patients with active SLE? Learn about a treatment option for your patients at treatfortodayandtomorrow.com

A paper on CARD8 in the setting of CAPS 13:50
Let’s talk about prostaglandins 15:27
There are over 100 mutations in CAPS 18:15
Let’s talk about treatment 18:42
One caveat 25:41
That’s CAPS 26:45
Reach out to me via email and on Twitter 27:03
Episode recap 27:41

We’d love to hear from you! Send your comments/questions to [email protected]. Follow us on Twitter @HRheuminations @AdamJBrownMD @HealioRheum

Brought to you by GSK. Consider the long-term impact of disease activity, flares and corticosteroid use on patients with active SLE. Learn more now at treatfortodayandtomorrow.com.

Disclosure: Brown reports no relevant financial disclosures.

References:

Agostini L, et al. Immunity. 2004;20:319-325.

Brogan PA, et al. Arthritis Rheum. 2019;71:1955-1963.

Marsaud C, et al. J Rheumatol. 2014;41:1721-1722.

Hawkins PN, et al. NEJM. 2003;348:2583-2584.

Hoffman HM, et al. Lancet. 2004;364:1779-1785.

Hoffman HM, et al. Clin Ther. 2012;34:2091-2103.

Ito S, et al. Arthritis Res Ther. 2014;16:doi:10.1186/ar4483.

Kuemmerle-Deschner JB, et al. Ann Rheum Dis. 2011;70:2095-2102.

Lachmann HJ, et al. NEJM. 2009;360:2416-2425.

Mamoudjy N, et al. Orphanet J Rare Dis. 2017;12:doi:10.1186/s13023-017-0589-1.