Cryopyrin-associated autoinflammatory syndromes (CAPS) consist of three diseases related to a defect in the same gene. The three diseases differ in the organs involved and in the severity of the disease. They include:
- Neonatal Onset Multisystem Inflammatory Disease (NOMID), also called in Chronic Inflammatory Neurological Cutaneous Articular Syndrome (CINCA)
- Muckle-Wells syndrome (MWS)
- Familial cold autoinflammatory syndrome (FCAS)
Neonatal Onset Multisystem Inflammatory Disease (NOMID) is the most severe and least common of the CAPS. It causes fever with inflammation in multiple organs starting shortly after birth. Infants present with symptoms of infection (e.g., fever, rash) but no infection is found. The rash resembles hives. Patients can have chronic meningitis (inflammation of the membranes surrounding the brain) resulting in headache, blindness, hearing loss, or other neurologic problems. The eyes often appear as bulging, and children often have episodes of vomiting. Without treatment, 50% of patients develop joint pain and swelling of the bones surrounding the large joints, especially the knees. There can be growth delay; children with NOMID are often very short. Not all children have all of these symptoms.
In Muckle-Wells syndrome (MWS), patients develop episodic fever, chills, rash, red eyes, joint pain, and severe headaches, often after exposure to cold. Episodes last from one to three days. Deafness or partial hearing loss often develops by teenage years, and, if untreated, it may lead to amyloidosis.
In familial cold autoinflammatory syndrome (FCAS), exposure to cold (including air-conditioning) and—perhaps—other environmental triggers causes a hive-like rash, fever, chills, nausea, headaches and joint pain. Episodes usually last up to one day. There are no known long-term secondary consequences.