Cryopyrin-Associated Periodic Syndromes (CAPS)
Three very rare genetic diseases are caused by a defect in the same protein: cryopyrin.
Cryopyrin-associated periodic syndromes (CAPS) are three very rare diseases related to a defect in the same gene. The three diseases are :
- Neonatal onset multisystem inflammatory disease (NOMID).
- Muckle-Wells syndrome.
- Familial cold autoinflammatory syndrome.
The symptoms and severity of CAPS vary by disease.
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
The most severe of the CAPS, this disease usually starts after birth and causes fever with inflammation in multiple organs. Early symptoms of NOMID may include a hive-like rash that doesn't itch, headache, bulging eyes or blindness, hearing loss, repeated vomiting or joint pain and swelling.
This disease is characterized by symptoms that come and go, and include 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.
Familial Cold Autoinflammatory Syndrome
In people with this disease, exposure to cold or other environmental triggers causes a hive-like rash. Other symptoms include fever, chills, nausea, extreme thirst, headache or joint pain.
• Decreased quality of life.
• Severe joint deformities.
• Neurologic damage to eyes and ears.
• Kidney damage due to amyloidosis.
Doctors who suspect CAPS based on a physical exam may use one or more of several tests to confirm the diagnosis. These include:
- Genetic test.
- Skin biopsy of the rash.
- Eye exam.
- Hearing test.
- Test on joint fluid obtained from a puncture in the lower spine.
- Magnetic resonance image of the brain and inner ears.
Research in recent years shows that biologic drugs that target interleukin-1 are effective for treating CAPS. These IL-1 inhibitors include anakinra, rilonacept and canakinumab. These treatments must be taken life-long but can allow children to lead near-normal lives.
Other treatments include physical therapy; splints to treat joint alignment; and nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or methotrexate to reduce symptoms. Surgery can correct joint deformities. Hearing aids may be needed for some children.
Learn more about the medications used to treat CAPS at the arthritis drug guide.
Having a chronic disease and caring for a child with CAPS can lead to financial and emotional distress. Support of friends, family, and counselors are important for anyone living with or caring for child with CAPS.
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