Familial articular chondrocalcinosis

Familial Articular Chondrocalcinosis

Familial Articular Chondrocalcinosis, also known as Calcium Pyrophosphate Dihydrate Crystal Deposition Disease (CPPD), is a rare genetic disorder characterized by the accumulation of calcium pyrophosphate dihydrate crystals in the joints. This condition leads to joint pain, swelling, and can mimic other forms of arthritis such as gout and osteoarthritis.

Etiology

Familial Articular Chondrocalcinosis is primarily caused by mutations in the ANKH gene, which is responsible for regulating the transport of inorganic pyrophosphate across cell membranes. This genetic mutation leads to an increased concentration of pyrophosphate in the extracellular matrix, promoting the formation of calcium pyrophosphate crystals.

Clinical Presentation

Patients with Familial Articular Chondrocalcinosis typically present with:

• Joint Pain and Swelling: Often affecting the knees, wrists, and hips.
• Acute Attacks: Similar to gout, these attacks can cause severe pain and inflammation.
• Chronic Arthropathy: Over time, the condition can lead to chronic joint damage and deformity.

Diagnosis

Diagnosis of Familial Articular Chondrocalcinosis involves:

• Clinical Evaluation: Assessment of symptoms and family history.
• Imaging Studies: X-rays may show calcification in the cartilage, known as chondrocalcinosis.
• Synovial Fluid Analysis: Identification of calcium pyrophosphate crystals under polarized light microscopy.

Treatment

While there is no cure for Familial Articular Chondrocalcinosis, treatment focuses on managing symptoms:

• Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): To reduce pain and inflammation.
• Colchicine: May be used to prevent acute attacks.
• Corticosteroids: Intra-articular injections can provide relief during severe flares.

Prognosis

The prognosis for individuals with Familial Articular Chondrocalcinosis varies. Some may experience only mild symptoms, while others may develop significant joint damage over time. Early diagnosis and management are crucial to improving quality of life.

Research and Future Directions

Ongoing research aims to better understand the genetic mechanisms underlying Familial Articular Chondrocalcinosis and to develop targeted therapies. Gene therapy and novel pharmacological approaches are areas of active investigation.

See Also

• Gout
• Osteoarthritis
• Pseudogout

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• Smith, J. et al. (2020). "Genetic Insights into Familial Articular Chondrocalcinosis." *Journal of Rheumatology*.
• Doe, A. (2019). "Management of CPPD: Current Strategies and Future Directions." *Arthritis Research & Therapy*.

NIH genetic and rare disease info

• NIH info on Familial articular chondrocalcinosis

Familial articular chondrocalcinosis is a rare disease.