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

Bruges-Armas, J., Couto, A. R., Timms, A., Santos, M. R., Bettencourt, B. F., Peixoto, M. J., Colquhoun, K., McNally, E. G., Carneiro, V., Herrero-Beaumont, G., & Brown, Matthew A. (2006) Ectopic calcification among families in the Azores: Clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis. Arthritis and Rheumatism, 54(4), pp. 1340-1349.

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Abstract

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 Espirito, 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.

Impact and interest:

18 citations in Scopus
10 citations in Web of Science®
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ID Code: 87770
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: pyrophosphate, adult, aged, ankylosing hyperostosis, ankylosis, arthralgia, arthropathy, article, Atlantic islands, autosomal dominant disorder, axial pain, bone, bone deformation, calcification, calcinosis, chondrocalcinosis, computer assisted tomography, crystal, elbow disease, elbow radiography, enthesopathic calcinosis, familial disease, family study, female, hand disease, human, joint effusion, knee effusion, knee pain, knee radiography, ligament, major clinical study, male, metacarpophalangeal joint, monogenic disorder, onset age, pain, pelvis radiography, periarticular ossification, phenotype, priority journal, pyrophosphate arthropathy, sacroiliac joint, sclerosis, spine radiography, swelling, symptomatology, tendon, wrist radiography, Aged, 80 and over, Azores, Humans, Hyperostosis, Diffuse Idiopathic Skeletal, Middle Aged, Pedigree
DOI: 10.1002/art.21727
ISSN: 0004-3591
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 28 Sep 2015 06:02
Last Modified: 25 Jun 2017 17:01

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