Primary care
Recommendation 1
Specialist referrals and medication management
Familial Calcium Pyrophosphate Deposition Disease
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Autosomal dominant disorder characterized by deposits of calcium pyrophosphate crystals (CPP) in joint cartilage and eventual damage to affected joints.
Common symptoms
Recurring attacks of painswellingwarmth and redness in one or joints and loss of motion
When to suspect
Recommendation 1
X-rays of joints, especially the knees and wrists, detect calcifications and molecular genetic testing for mutations in the ANKH gene
How to test
Recommendation 1
X-rays of joints, especially the knees and wrists, detect calcifications and molecular genetic testing for mutations in the ANKH gene
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Corticosteroids, nonsteroidal anti-inflammatory drugs and colchicine [
Further support
Recommendation 1
No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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