Cryopyrin-associated Periodic Syndromes (CAPS)

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare, inherited autoinflammatory disorders that are caused by mutations of the NLRP3 gene.

The term “periodic” in CAPS refers to the recurrent nature of the disease, in which flares in symptoms can come and go without warning. It is estimated that there are approximately 5,000 cases of CAPS around the world.

Patients with CAPS may experience:

Fever
Joint pain and swelling
Inflamed eyes
Organ inflammation
Neurological problems

In severe cases, a condition known as macrophage activation syndrome (MAS), which can be fatal, can develop. The inflammation associated with CAPS can affect organs including the heart, lungs, and kidneys and can cause extra-articular manifestations, such as rashes and abdominal pain.

Treatment for CAPS usually involves long-term medication to help control the inflammation, as well as close monitoring with a team of specialists to recognize any signs of flares. Regular blood tests, urine tests, and imaging tests like CT or MRI scans are important tools in monitoring for flare-ups and recognizing complications of the disease.

Genetic counseling may also be recommended for those with CAPS for family planning purposes. The NLRP3 gene mutation is inherited in an autosomal dominant manner, meaning that anyone with one copy of the mutated NLRP3 gene has a 50% chance of passing it down to their children.