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| Disease found: | Familial Calcium Pyrophosphate Deposition Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal dominant disorder characterized by deposits of calcium pyrophosphate crystals (CPP) in joint cartilage and eventual damage to affected joints. [more info] |
| Signs and Symptoms: | Recurring attacks of pain, swelling, warmth and redness in one or more joints and loss of motion [more info] |
| Diagnosis: | X-rays of joints, especially the knees and wrists, detect calcifications and molecular genetic testing for mutations in the ANKH gene [more info] |
| Treatment: | Corticosteroids, nonsteroidal anti-inflammatory drugs and colchicine [[more info] |
| Clinical Management: | Specialist referrals and medication management [more info] |
| Referral: | 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: | None is available, but can sign up to be notified when one becomes available |