Chondrocalcinosis familial articular

Chondrocalcinosis familial articular is a rare genetic disorder characterized by the accumulation of calcium pyrophosphate dihydrate (CPPD) crystals in the joints, leading to painful arthritis. This condition is also known as familial articular chondrocalcinosis or familial calcium pyrophosphate dihydrate deposition disease.

Etiology

The exact cause of chondrocalcinosis familial articular is not fully understood. However, it is known to be a genetic disorder, inherited in an autosomal dominant manner. Mutations in the ANKH gene have been associated with this condition. The ANKH gene provides instructions for making a protein that is involved in transporting inorganic pyrophosphate (PPi) out of cells. PPi is a byproduct of many cellular reactions and it must be removed to prevent harmful buildup. Mutations in the ANKH gene disrupt this process, leading to the accumulation of PPi and the formation of CPPD crystals in the joints.

Symptoms

Symptoms of chondrocalcinosis familial articular typically begin in middle age and can vary widely in severity. They include joint pain, swelling, and stiffness, particularly in the knees, wrists, and hips. Some individuals may also experience episodes of acute inflammatory arthritis, known as pseudogout.

Diagnosis

Diagnosis of chondrocalcinosis familial articular is based on the presence of characteristic clinical features and confirmed by the identification of CPPD crystals in joint fluid or in tissue samples. Genetic testing can also be used to identify mutations in the ANKH gene.

Treatment

There is currently no cure for chondrocalcinosis familial articular. Treatment is focused on managing symptoms and may include pain relievers, anti-inflammatory medications, and physical therapy. In severe cases, joint replacement surgery may be necessary.

See also

• Calcium pyrophosphate dihydrate deposition disease
• Pseudogout
• Arthritis
• Genetic disorder