Chondrocalcinosis 2

Disease Overview

Chondrocalcinosis 2 is a rare disease characterized by the accumulation of calcium pyrophosphate dihydrate (CPP) crystals in and around the joints. A buildup of these crystals can lead to joint pain and damage that is progressive (worsens over time).[8205][8207] Signs and symptoms of the disease include chronic joint pain or sudden, recurrent episodes of pain, as well as stiffness or swelling of the joints.[8205][8207][8206] Chondrocalcinosis 2 is actually a familial form of chondrocalcinosis (also known as calcium pyrophosphate deposition disease or CPPD), which is caused by a similar buildup of CPP crystals but is associated with the aging process. The age-related chondrocalcinosis is quite common, whereas chondrocalcinosis 2 is not.[8208] In addition, people with chondrocalcinosis 2 are more likely to have symptoms that develop earlier in adulthood than the age-related form.[8206].

Chondrocalcinosis 2 is caused by changes in the ANKH gene. The disease is inherited in an autosomal dominant manner.[8207][8208] Chondrocalcinosis 2 is diagnosed based on imaging such as X-rays. The diagnosis can be confirmed with genetic testing of the ANKH gene. Treatment may include the use of corticosteroids, pain relievers, and physical therapy.[8205][8207] 

Synonyms

• CCAL2
• Chondrocalcinosis familial articular
• Familial articular chondrocalcinosis
• Calcium pyrophosphate arthropathy
• CPPDD
• Familial Calcium pyrophosphate dihydrate deposition disease
• Calcium gout
• Calcium gout, familial
• Calcium pyrophosphate arthropathy, familial
• Pseudogout, familial