Chondrocalcinosis 2 (CCAL2) is a chronic articular disorder described by acute intermittent attacks of arthritis and the presence of calcium hypophosphate crystals in synovial fluid, cartilage, and periarticular soft tissue (lining of soft tissue with calcium). CCAL2 symptoms include osteoarthritis, joint pain, and stiff joints, these symptoms occur due to the deposit of crystals containing calcium, which causes pain, inflammation, and weakens the cartilage of the joints causing it to break easily. CCAL2 occurs in three forms: sporadic form (idiopathic), hereditary form, and a form correlated with metabolic diseases like hyperparathyroidism, hypothyroidism, Wilson disease, and hemochromatosis. The sporadic form occurs in middle-aged or elderly subjects, meanwhile hereditary form and forms associated with other disease occur at an earlier age.
CCAL2 male to female ratio is about 1.4:1. CCAL2 is treated based on the degree of involvement such as patients demonstrating common presentation like arthritic symptoms will pursue the treatment allocated to osteoarthritis (OA) which includes physical therapy, adapted activity, and non-steroidal anti-inflammatory drugs (NSAIDS). If these treatments prove to be ineffective, surgical interference is suggested. Meanwhile, subjects experiencing acute attacks involving pain and disability will undergo arthrocentesis mixed with management of an intra-articular steroid. Moreover, patients experiencing re-current episodes are provided with NSAIDS and colchicines for further prevention. Recent research demonstrated the effective role of ethylene diamine tetra acetic acid (EDTA) for the treatment of CCAL2, however, due to the significant adverse effects EDTA is still under massive examination.
Chondrocalcinosis 2 (CCAL2) occurs due to mutations in the ANKH gene. ANKH protein consists of 492 amino acids, with a molecular weight of 54,241 kD, and includes a multi-pass transmembrane domain. The protein is expressed in the joints, bones and further tissues, and it controls pyrophosphate levels in cultured cells. Research suggested that certain polymorphisms in the ANKH gene might be correlated with the normal differentiation in bone size and shape amongst persons, leading to the alteration of ANKH gene activity which influences the pyrophosphate levels within the extracellular matrix.