Familial calcium pyrophosphate deposition

Familial calcium pyrophosphate deposition (familial CPPD), also known as familial chondrocalcinosis or hereditary articular chondrocalcinosis, is a rare inherited metabolic disorder characterized by the accumulation of calcium pyrophosphate dihydrate (CPPD) crystals in joint cartilage and surrounding tissues. This crystal deposition leads to recurrent episodes of acute joint inflammation (pseudogout) that can closely mimic gout, as well as chronic progressive joint degeneration resembling osteoarthritis. The condition primarily affects the musculoskeletal system, with the knees, wrists, hips, and symphysis pubis being the most commonly involved joints. Patients typically experience episodic attacks of joint pain, swelling, warmth, and stiffness, which may be triggered by illness, surgery, or trauma. Radiographic imaging often reveals characteristic calcification of articular cartilage (chondrocalcinosis). Familial CPPD is genetically heterogeneous. Several loci have been identified, including mutations in the ANKH gene (also known as CCAL2, on chromosome 5p15.2), which encodes a transmembrane protein involved in inorganic pyrophosphate transport. Other loci mapped include CCAL1 on chromosome 8q. The familial form tends to present at an earlier age than the more common sporadic form of CPPD disease, often manifesting in the third to fifth decade of life, and may follow a more severe clinical course with polyarticular involvement. There is currently no cure for familial CPPD, and no treatment exists to dissolve or prevent crystal deposition. Management is primarily symptomatic and includes nonsteroidal anti-inflammatory drugs (NSAIDs), colchicine for acute attacks and prophylaxis, and intra-articular corticosteroid injections. In cases of severe joint destruction, surgical joint replacement may be considered. Low-dose colchicine may be used as a long-term prophylactic measure to reduce the frequency of acute episodes. Genetic counseling is recommended for affected families.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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