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Cryopyrin-associated periodic syndromes
ICD10CM code
Name of the Condition
- Cryopyrin-associated periodic syndromes (CAPS)
- Also referred to as cryopyrinopathies or autoinflammatory syndromes.
Summary
Cryopyrin-associated periodic syndromes (CAPS) are a group of rare, inherited autoinflammatory diseases characterized by recurrent episodes of fever, rash, and joint pain. These syndromes are caused by mutations in the NLRP3 gene, leading to excessive inflammation in the body.
Causes
- Genetic Mutations: Mutations in the NLRP3 gene, which plays a role in the body's inflammatory response, are the primary cause. These conditions are typically inherited in an autosomal dominant pattern.
Risk Factors
- Genetic Predisposition: A family history of CAPS increases the likelihood of inheriting the condition.
- Genetic Mutations: Presence of NLRP3 mutations.
Symptoms
- Recurrent fevers
- Urticarial rash (resembling hives)
- Joint pain or arthritis
- Fatigue
- Eye inflammation (conjunctivitis)
- Hearing loss (in severe cases)
Diagnosis
- Genetic Testing: Confirms the presence of NLRP3 mutations.
- Clinical Evaluation: Assessment of symptoms and medical history.
- Blood Tests: May show elevated inflammatory markers.
Treatment Options
- Biological Therapies: Medications like anakinra, canakinumab, and rilonacept that target and reduce inflammation.
- NSAIDs: Nonsteroidal anti-inflammatory drugs may be used to alleviate symptoms.
- Regular follow-up to monitor disease activity and adjust treatment as necessary.
Prognosis and Follow-Up
- With appropriate treatment, patients can manage symptoms effectively, leading to improved quality of life.
- Lifelong treatment and monitoring are often required to prevent complications.
Complications
- Progressive hearing loss
- Amyloidosis (a condition in which protein builds up in organs)
- Chronic kidney damage
Lifestyle & Prevention
- Symptom Management: Regular treatment adherence and avoiding known triggers.
- No known preventive measures due to the genetic nature of the condition.
When to Seek Professional Help
- Sudden worsening of symptoms
- New or severe symptoms such as high fever, severe joint pain, or vision changes
Additional Resources
Tips for Medical Coders
- Ensure accurate documentation of genetic test results when coding.
- Avoid miscoding by distinguishing CAPS from other autoinflammatory or autoimmune conditions.