Description, Causes and Risk Factors:
A disease characterized by deposits of calcium pyrophosphate crystals free of urate in synovial fluid, articular cartilage, and adjacent soft tissue; causes various forms of arthritis commonly characterized by gout-like attacks of pain, swelling of joints, and radiologic evidence of calcification in articular cartilage (pseudogout); inherited as an autosomal-dominant trait in some cases, and associated with certain diseases in others.
The aetiology is unclear. Most cases are due to deposition of CPPD (calcium pyrophosphate dehydrate) crystals, although other calcium salts can occasionally cause chondrocalcinosis. A number of metabolic and endocrine diseases and local abnormalities have been reported in sporadic articular chondrocalcinosis, but many of these may represent chance rather than true association. Diabetes mellitus and hypothyroidism are the major risk factors.
Two different genes have been linked to the two types of chondrocalcinosis. CCAL2 is caused by a mutation in the ANKH gene which is located on chromosome 5 at gene map locus 5p15.2-p14.1. The gene for CCAL1 has been mapped to the short arm of chromosome 8 (8q). The primary event causing CCAL1 has not been determined. It could be that a defect in a gene for chondrocalcinosis causes a deposition of calcium-containing crystals in the joint tissue that then leads to osteoarthritis. Alternatively, a mutation in an osteoarthritis gene may cause changes in cartilage allowing calcium-containing crystals to be more readily deposited.
Articular chondrocalcinosis is a rare disorder that typically affects adults over the age of 60 years. However, some cases have been reported in younger adults. The distribution of cases by sex is unclear. All ethnic groups can be affected.
Symptoms may develop due to decreased activity of the enzyme nucleoside triphosphate pyrophosphohydrolase. The symptoms of articular chondrocalcinosis mimic those of classical gout and may include swelling, stiffness, and pain, usually in one joint. The knee is most commonly affected.
X-rays of joints, especially the knees and wrists, may detect calcifications before symptoms occur. The diagnosis of familial articular chondrocalcinosis is based on a clinical evaluation that includes a thorough patient history and specialized laboratory tests. In one test, fluid is removed from around an affected joint (synovial fluid). The presence of calcium pyrophosphate crystals in this fluid confirms the diagnosis of articular chondrocalcinosis. Radiographic (x-ray) studies typically demonstrate calcium deposits in the cartilage around joints (articular).
Genetic counseling may be of benefit for affected individuals and their families.
Treatment for familial articular chondrocalcinosis is symptomatic. There is no way to prevent the formation of calcium pyrophosphate crystals or to satisfactorily remove existing crystals from the joints.
Acute attacks of familial articular chondrocalcinosis are treated in several ways. Excess fluid may be drained from the affected joint by means of syringe. If only one joint is involved, a corticosteroid drug (i.e., prednisone) may be injected directly into the affected joint (intra- articular). For those individuals with frequent, recurring acute attacks, colchicine may be an effective drug for treating familial articular chondrocalcinosis. This medication is also used to treat classical gout. Other drugs that are frequently used to treat joint pain include aspirin and other nonsteroidal anti-inflammatory drugs (e.g., ibuprofen and naproxen sodium) that are commonly prescribed for many types of arthritic conditions.
During an acute attack of familial articular chondrocalcinosis, the affected joint may require rest. Splints, canes, and other devices that protect and support the joint may be prescribed and may require special fitting. Once the episode subsides, or in cases of the milder chronic form, rest should be balanced with appropriate exercise that is carefully monitored by a physician or physical therapist.
In some rare cases of familial articular chondrocalcinosis, surgery may be necessary to repair a joint that is badly damaged, very painful and unstable or immobile. Surgery may be an effective means for reducing pain and enhancing mobility in some cases. Other treatment is symptomatic and supportive.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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