Familial and clinical aspects of calcium pyrophosphate deposition diseas

Abstract

The mechanisms involved in calcium pyrophosphate dehydrated deposition disease (CPPDD) are unknown and those families with the disease, described in different countries, provide a fertile file for genomic research. Genomic DNA studies in these kindred with secondary or primary form of CPPDD provide a shortcut for trying to investigate the biomolecular basis of the disease. Mutations in the COL2A1 gene have been identified in one family with spondyloepiphyseal dysplasia and secondary deposits of pyrophosphate and apatite crystalline deposits. In another kindred with CPPDD due to precocious osteoarthritis, the phenotype was linked to markers of chromosome 8p. In four other kindreds (British, Argentinean, French, and the United States), the phenotypes were linked to a precise region of chromosome 5p. Two possible genes located in this region that are expressed in the articular cartilage, but of unknown articular physiologic role are being investigated as possible CPPDD genes. From the clinical point of view, CPPDD spectrum of clinical and radiographic manifestations is enlarging, especially those related to spine involvement or pseudo tumoral forms. At the end, the present review of a current therapeutic approach for CPPDD is discussed.

Tumoral calcinosis producing peripheral nerve compression

“…8,10,11 Less extensive abnormal soft-tissue calcium deposits may also be seen in the setting of aluminum toxicity and advanced age. 2,3 Tumoral calcinosis has principally been described in the setting of abnormally elevated serum calcium phosphate levels and is associated with conditions such as hyperparathyroidism, osteolytic metastatic disease and vitamin D intoxication.…”

“…1,9,11 Other measures, in the setting of uremia, include increasing the frequency of dialysis and lowering the concentration of calcium in the dialysate. Medical management includes prescribing a diet low in calcium, phosphorous, and protein, treating patients with phosphate binding medications, and maintaining strict control of metabolic acidosis.…”

Bilateral temporomandibular joint pseudogout

“…A study carried out in Europe in 1995 linked a familial form of the condition to chromosome 5p, 5 and further work carried out linked it more closely to 5p15, the short arm of chromosome 5. 6,7 Another team has linked it to chromosome 8p as part of a syndrome with an early onset osteoarthritis, 8 and it has recently been associated with chromosome 15. 14 The pathogenesis of calcium pyrophosphate dihydrate crystal deposition is not fully understood.…”

“…1 Various genetic studies have linked CPPD to chromosomes 5p, 8p and 15. [5][6][7][8] There are also associations with systemic diseases such as hypophosphatasia, hypothyroidism and hyperparathyroidism.…”

Calcium Pyrophosphate Dihydrate Crystal Deposition Disease

“…The chromosomal location of human ANK (chromosome 5p15) overlaps the locus identified in several kindreds affected with familial chondrocalcinosis. [7][8][9] CPPD crystal deposition disease associated with metabolic disease accounts for 5 to 10% of patients seen in clinical practice. 1,10 It has been reported in association with hyperparathyroidism, hemochromatosis, ochronosis, hypophosphatasia, and many others.…”