Degenerative Disc Disease
Cryopyrin-associated periodic syndromes (CAPS), also called cryopyrin-associated autoinflammatory syndrome are three disease related to a defect in the same gene: neonatal onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome and familial cold autoinflammatory syndrome. The differences in these diseases are in their severity and the organs involved.
CAPS is caused by a gene mutation that results in a defect in a protein called cryopyrin, which plays an important role in controlling inflammation. CAPS is an autosomal dominant disease, meaning only one copy of the gene from one parent is needed to cause the disease.
The symptoms and severity vary by specific disease. NOMID, or neonatal onset multisystem inflammatory disease – the most severe of the CAPS – causes fever with inflammation in multiple organs. Early symptoms of NOMID may include a hive-like rash that does not itch; inflammation of the membrane surrounding the brain, which causes headache, blindness or hearing loss; bulging appearance to the eyes; and episodes of vomiting. After age 1, half of children with NOMID develop joint pain and swelling.
Muckle-Wells syndrome is characterized by symptoms that come and go, including skin rash, red eyes, joint pain and severe headaches with vomiting. Episodes last between one and three days. Hearing loss, which may be complete, often occurs by the teenage years.
In people with familial cold autoinflammatory syndrome, exposure to cold and possibility other environmental triggers causes a hive-like rash. Other symptoms include fever, chills, nausea, extreme thirst, headache and joint pain.
Doctors who suspect a diagnosis of CAPS based on a physical examination may use one or more of several tests to confirm the diagnosis. These include genetic tests, skin biopsy of the rash, eye exam, hearing tests, tests on joint fluid obtained from a puncture in the lower spine and magnetic resonance images of the brain and inner ears.
Research in recent years shows that biologic agents that target interleukin-1 are effective for treating CAPS.
Other treatments include physical therapy, splints to treat joint deformities, and nonsteroidal anti-inflammatory drugs, corticosteroids or methotrexate to reduce symptoms. Less commonly, surgery is needed to correct joint deformities.
Until an effective treatment for cold autoinflammatory disease is discovered, people with the syndrome may benefit from moving to a place with mild weather. Emotional support is important for anyone living with or caring for child with CAPS.