CAPS stands for Cryopyrin-Associated Autoinflammatory Syndrome, but in reality, this ‘syndrome’ is actually three different syndromes:
- Neonatal Onset Multisystem Inflammatory Disease (NOMID)This is the rarest and most severe type of CAPS, causing infection-like symptoms like rashes and fevers in newborns where no infection is present. The disease can cause blindness, stunted growth, and chronic joint pain later in life.
- Muckle-Wells SyndromeSymptoms of this syndrome include fever, rash, joint pain, headaches, red eyes, and GI upset/nausea. Hearing can even be affected.
- Familial Cold Autoinflammatory SyndromeExposure to cold temperatures causes a rash similar to hives with this syndrome, bringing fevers, GI upset/nausea, and joint pain as well.
These conditions are genetic and are caused by a mutation in the protein cryopyrin. Diagnosis can be made via genetic testing (which isn’t always accurate), and other sometimes invasive tests like lumbar punctures.
Kineret, Ilaris, and Arcalyst, all focusing on interleukins, help to treat this series of syndromes the best.
As with other genetic issues in the periodic fever family, kidney disease can be common, especially for un- or undertreated patients.
Sources:
http://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Cryopyrin-Associated-Autoinflammatory-Syndrome-CAPS-Juvenile
http://www.capscommunity.com/caps_fact_caps_md.html
http://www.arthritis.org/about-arthritis/types/cryopyrin-associated-periodic-syndromes-caps/
http://www.nyas.org/image.axd?id=7a2e9daf-d10b-42ba-ad26-e8de00a41a28&t=633807535794630000
Commenting here since I will forget if I don't. What determines the increase of disease severity? Is it just outcomes like in the blue boxes or do symptoms and quality of life contribute as well? This chart seems easy enough to rank but I could see there being a divergence between physicians in textbooks and engaged patients for ranking other diseases. 😉
I think it's just an easy scale to try to depict the severity as one looks at one iteration versus another… I have no doubt that it's likely frustrating to patients though! Textbook versus real life is SO different.