Familial articular chondrocalcinosis in Spain.

Balsa, A.; Martı́n-Mola, Emilio; González, Tomás; Cruz, André Santa; Ojeda, Sandra S.; Gijón-Baños, J

doi:10.1136/ard.49.7.531

Cited by 29 publications

(15 citation statements)

References 16 publications

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“…4 10 11 The role of genetic factors in predisposition to common, apparently sporadic CC and PA remains unknown. Although McCarty et al initially found a 25% prevalence of familial CC in their case series, 12 there have been just three systematic studies, all undertaken in Spain, to determine the prevalence of CC in first degree relatives of patients with apparently sporadic CC or PA. All concur in reporting high prevalence rates of 11%, 13 26%, 14 and 28%. 15 However, caveats to these studies include focused selection of index cases from rheumatology units; small numbers of index cases; high non-participation rates in index cases and relatives; and, importantly, absence of a community control population.…”

supporting

confidence: 51%

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Relative risk of knee chondrocalcinosis in siblings of index cases with pyrophosphate arthropathy

Zhang

Neame²,

Doherty³

et al. 2004

Annals of the Rheumatic Diseases

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Objectives: To examine the genetic contribution to common, apparently sporadic, radiographic knee chondrocalcinosis (CC) and pyrophosphate arthropathy (PA). Method: (1) Design: radiographic sibling study. Comparison of the prevalences of knee CC and PA in siblings of index cases with PA with those in the community. (2) Subjects: 80 index cases with PA listed for total knee replacement; 122 of their siblings aged >40 years; and 1729 participants from community knee pain surveys who had undergone knee radiographs. (3) Main outcome measure: odds ratios of knee CC and PA in siblings versus community participants. Results: The prevalence of knee CC was 13% (15/116) in the siblings and 6.9% (119/1727) in the community participants. The adjusted odds ratio (aOR) was 1.2, 95% confidence interval (CI) 0.6 to 2.3. The main risk factors for knee CC were age, knee pain, and knee OA. The prevalence of knee PA was 7% (9/122) in the siblings and 3.4% (59/1729) among the community participants (aOR = 1.1, 95% CI 0.4 to 2.7). The main risk factors for PA were age and knee pain. The age, sex, and knee pain standardised prevalence of PA in the Nottingham community aged >40 was 2.40%. Conclusion: The risk of knee CC and PA in siblings of index cases with PA is no higher than that in the general population. Although rare familial CC is recognised, this study suggests that no major genetic predisposition to CC occurs in common symptomatic knee OA.

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supporting

confidence: 51%

“…Firstly, we restricted the study to siblings rather than to all available relatives. [13][14][15] Secondly, we undertook radiographic screening of knees only, rather than knees, pelvis, and hands. [13][14][15] Thirdly, we selected consecutive index cases from a surgical register rather than patients from rheumatology clinics.…”

Section: Discussionmentioning

confidence: 99%

Relative risk of knee chondrocalcinosis in siblings of index cases with pyrophosphate arthropathy

Zhang

Neame²,

Doherty³

et al. 2004

Annals of the Rheumatic Diseases

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“…A hereditary form of "chondrocalcinosis articularis" was first reported by Zitnan and Sitaj (16) in 7 Czechoslovakian kindreds in 1963. Since then, many reports of familial aggregation have been reported in different ethnic groups, most of them showing an autosomal-dominant inheritance (17)(18)(19)(20)(21)(22)(23). In contrast, very few cases of familial DISH have been reported (24)(25)(26)(27), and to our knowledge, there is only one description of DISH in association with calcium pyrophosphate dihydrate (CPPD) crystals (8).…”

mentioning

confidence: 99%

Ectopic calcification among families in the Azores: Clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis

Bruges-Armas¹,

Couto²,

Timms³

et al. 2006

Arthritis & Rheumatism

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Objective. Twelve families that were multiply affected with diffuse idiopathic skeletal hyperostosis (DISH) and/or chondrocalcinosis, were identified on the island of Terceira, The Azores, potentially supporting the hypothesis that the 2 disorders share common etiopathogenic factors. The present study was undertaken to investigate this hypothesis.Methods. One hundred three individuals from 12 unrelated families were assessed. Probands were identified from patients attending the Rheumatic Diseases Clinic, Hospital de Santo Espírito, in The Azores. Family members were assessed by rheumatologists and radiologists. Radiographs of all family members were obtained, including radiographs of the dorsolumbar spine, pelvis, knees, elbows, and wrists, and all cases were screened for known features of chondrocalcinosis.Results. Ectopic calcifications were identified in 70 patients. The most frequent symptoms or findings were as follows: axial pain, elbow, knee and metacarpophalangeal (MCP) joint pain, swelling, and/or deformity, and radiographic enthesopathic changes. Elbow and MCP joint periarticular calcifications were observed in 35 and 5 patients, respectively, and chondrocalcinosis was identified in 12 patients. Fifteen patients had sacroiliac disease (ankylosis or sclerosis) on computed tomography scans. Fifty-two patients could be classified as having definite (17%), probable (26%), or possible (31%) DISH. Concomitant DISH and chondrocalcinosis was diagnosed in 12 patients. Pyrophosphate crystals were identified from knee effusions in 13 patients. The pattern of disease transmission was compatible with an autosomal-dominant monogenic disease. The mean age at which symptoms developed was 38 years.Conclusion. These families may represent a familial type of pyrophosphate arthropathy with a phenotype that includes peripheral and axial enthesopathic calcifications. The concurrence of DISH and chondrocalcinosis suggests a shared pathogenic mechanism in the 2 conditions.

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“…More than 96 kindreds with this disease with different phenotypes have been described in five continents. A high prevalence of familial cases has been found in the Southern part of Chile, mainly in the Chiloe Islands [4,[6][7][8] and in Madrid, Spain [4,[9][10][11][12][13]. Other kindreds have been described as being scattered in almost every European country [4], mainly in Czechoslovakia [1,14], France [15,16], and England [17].…”

Section: Familial Calcium Pyrophosphate Deposition Diseasementioning

confidence: 98%

Familial and clinical aspects of calcium pyrophosphate deposition diseas

1999

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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.

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Familial articular chondrocalcinosis in Spain.

Cited by 29 publications

References 16 publications

Relative risk of knee chondrocalcinosis in siblings of index cases with pyrophosphate arthropathy

Relative risk of knee chondrocalcinosis in siblings of index cases with pyrophosphate arthropathy

Ectopic calcification among families in the Azores: Clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis

Familial and clinical aspects of calcium pyrophosphate deposition diseas

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