This is an excerpt from the report for demonstration purposes only.

Diagnosis: Variant CAPS (Cryopyrin-Associated Autoinflammatory Syndrome).  CAPS are very rare, found in about one in 360,000 to 1,000,000 people.

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), called in Europe Chronic Inflammatory Neurological Cutaneous Articular Syndrome (CINCA)

  • Muckle-Wells syndrome

  • Familial cold autoinflammatory syndrome

Neonatal Onset Multisystem Inflammatory Disease is the most severe and least common of the CAPS and causes fever with inflammation in multiple organs. Newborn babies can have signs that appear like an infection (e.g., fever, rash) but no infection is found. The rash resembles hives, but is not itchy. 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. After 1 year of age, 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, patients develop episodic fever, chills, rash, red eyes, joint pain, and severe headaches with vomiting. Episodes last from one - three days. Deafness or partial hearing loss often develops by teenage years.

In familial cold autoinflammatory syndrome, exposure to cold (including air-conditioning) and - perhaps - other environmental triggers causes a hive-like rash. Patients also can develop fever, chills, nausea, severe thirst, red eyes, headaches and joint pain. Episodes usually last up to one day.

Treatment: IL1 Inhibitor to alleviate symptoms.  There are three drugs that can be used to treat CAPS.

  • Anakinra (brand name Kineret) is a biopharmaceutical drug used to treat rheumatoid arthritis. Pharma Company: Sobi.

  • Rilonacept, also known as IL-1 Trap, is an interleukin 1 inhibitor. Pharma Company: Regeneron.

  • Canakinumab is a human monoclonal antibody targeted at interleukin-1 beta. It has no cross-reactivity with other members of the interleukin-1 family, including interleukin-1 alpha. Pharma Company: Novartis.

*Disclaimer/Limitations: Results interpretation is based on available clinical and family history information on the patient, collected published information, and relevant data mined from data sharing partners.  These results should not be used as the sole basis for patient management or treatment.  Interpretation of clinical significance is limited by information that is available at the time of reporting.  As the understanding of human genetic diversity improves, the interpretation may change.


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