A rare case of atypical tumoral presentation of calcium pyrophosphate dihydrate crystal deposition disease.
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ABSTRACT:
SUBMITTER: Kang X
PROVIDER: S-EPMC11320512 | biostudies-literature | 2024 Aug
REPOSITORIES: biostudies-literature
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A rare case of atypical tumoral presentation of calcium pyrophosphate dihydrate crystal deposition disease.
Kang Xuefeng X Gao Xiaomin X Chen Guangxiang G
Quantitative imaging in medicine and surgery 20240705 8
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Project description:Deposition of calcium pyrophosphate dihydrate (CPPD) crystals in the articular structures affects predominantly temporomandibular, knee, hip, spine, and wrist joints, and is a rare condition, often mimicking malignancy. Sternoclavicular joint is extremely rarely involved. We present a patient with swelling of the right upper extremity, in whom on computed tomography a mass posterior to the sternoclavicular joint causing compression of the brachiocephalic vein was detected. A modified resection arthroplasty was performed, and the histopathological findings revealed massive deposits of CPPD in the articular cartilage. To our knowledge, there is only one similar case published in the literature.
| S-EPMC4670306 | biostudies-other
Project description:Calcium pyrophosphate deposition disease (CPDD) is a type of arthritis caused by the deposition of calcium pyrophosphate crystals, and may present as either acute or chronic arthritis. Development of CPPD crystal deposition disease in young people may be associated with metabolic diseases such as hemochromatosis, hyperparathyroidism, hypomagnesemia, Wilson's disease, hypothyroidism, gout, acromegaly, and X-linked hypophosphatemic rickets. Therefore, investigations for a predisposing metabolic condition are advised in young-onset polyarticular CPPD crystal deposition disease. In this article, we report two young patients who were investigated for recurrent joint pain due to CPPD disease.
| S-EPMC6190932 | biostudies-other
Project description:Familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is a disease of articular cartilage that is radiographically characterized by chondrocalcinosis due to the deposition of calcium-containing crystals in affected joints. We have documented the disease in an Argentinean kindred of northern Italian ancestry and in a French kindred from the Alsace region. Both families presented with a common phenotype including early age at onset and deposition of crystals of calcium pyrophosphate dihydrate in a similar pattern of affected joints. Affected family members were karyotypically normal. Linkage to the short arm of chromosome 5 was observed, consistent with a previous report of linkage of the CPPDD phenotype in a large British kindred to the 5p15 region. However, recombinants in the Argentinean kindred have enabled us to designate a region<1 cM in length between the markers D5S416 and D5S2114 as the CPPDD locus.
| S-EPMC1377711 | biostudies-other
Project description:Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5p15. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition.
| S-EPMC419998 | biostudies-literature
Project description:Calcium pyrophosphate (CPP) crystal deposition (CPPD) is prevalent and can be associated with synovitis and joint damage. The population of elderly persons predominantly affected by CPPD is growing rapidly. Since shortfalls exist in many aspects of CPPD, we conducted an anonymous survey of CPPD unmet needs, prioritized by experts from the Gout, Hyperuricemia and Crystal-Associated Disease Network. We provide our perspectives on the survey results, and we propose several CPPD basic and clinical translational research pathways. Chondrocyte and cartilage culture systems for generating CPP crystals in vitro and transgenic small animal CPPD models are needed to better define CPPD mechanism paradigms and help guide new therapies. CPPD recognition, clinical research, and care would be improved by international consensus on CPPD nomenclature and disease phenotype classification, better exploitation of advanced imaging, and pragmatic new point-of-care crystal analytic approaches for detecting CPP crystals. Clinical impacts of CPP crystals in osteoarthritis and in asymptomatic joints in elderly persons remain major unanswered questions that are rendered more difficult by current inability to therapeutically limit or dissolve the crystal deposits and assess the consequent clinical outcome. Going forward, CPPD clinical research studies should define clinical settings in which articular CPPD does substantial harm and should include analyses of diverse clinical phenotypes and populations. Clinical trials should identify the best therapeutic targets to limit CPP crystal deposition and associated inflammation and should include assessment of intraarticular agents. Our perspective is that such advances in basic and clinical science in CPPD are now within reach and can lead to better treatments for this disorder.
| S-EPMC6105380 | biostudies-literature
Project description: Not available
| S-EPMC11557985 | biostudies-literature
Project description:ObjectiveTo develop the optimal US scanning protocol for the diagnosis of calcium pyrophosphate crystal deposition (CPPD) disease.MethodsIn this cross-sectional study, consecutive patients with a crystal-proven diagnosis of CPPD disease, and age-, sex-matched disease controls with a negative synovial fluid analysis were prospectively enrolled in two Italian Institutions. Four rheumatologists, blinded to patients' clinical details, performed US examinations using a standardized scanning protocol including 20 joints (shoulders, elbows, wrists, metacarpophalangeal joints from second to fifth fingers, hips, knees, ankles). CPPD was identified as presence/absence, according to the OMERACT definitions. Reduced US scanning protocols were developed by selecting the most informative joints to be imaged by US using the LASSO technique. Patients were randomly divided into training and validation sets. Their diagnostic accuracy was tested comparing the area under the receiver operating characteristic curves.ResultsThe number of participants enrolled was 204: 102 with CPPD disease and 102 disease controls [age, mean (s.d.): 71.3 (12.0) vs 71.1 (13.5) years; female: 62.8% vs 57.8%]. The median number of joints with US evidence of CPPD was 5 [interquartile range (IQR): 4-7] and 0 (IQR: 0-1) in patients with CPPD disease and controls, respectively (P < 0.01). The detection of CPPD in ≥2 joints using a reduced scanning protocol (bilateral assessment of knees, wrists and hips) showed a sensitivity of 96.7% (95% CI: 82.8, 99.9) and a specificity of 100 (95% CI: 88.8, 100.0) for the diagnosis of CPPD disease and had good feasibility [mean (s.d.): 12.5 (5.3) min].ConclusionBilateral US assessment of knees, wrists and hips had excellent accuracy and good feasibility for the diagnosis of CPPD disease.
| S-EPMC11292044 | biostudies-literature
Project description:Inflammatory arthritis, such as pseudogout or otherwise referred to as calcium pyrophosphate (CPP) crystal arthritis or calcium pyrophosphate deposition (CPPD) disease, is characterized by the deposition of crystal formation and deposition in large joints. CPPD is known to affect the elderly population and commonly manifests as inflammation of knees, hips, and shoulders. CPPD disease involving the spine has been infrequently encountered in practice and rarely described in the literature. Here, we describe a case of an 80-year-old female with no known history of inflammatory arthritis who presented with left lower extremity weakness and fall, initially thought to have discitis, later confirming CPPD of the spine through biopsy and ultimately resolution of symptoms with anti-inflammatory agents. Although consisting of different clinical presentations, two other case reports have described CPPD of the spine with similar radiographic findings, to this author's knowledge. With the radiologic similarities, this unique case serves to raise awareness in the medical community and possibly place pseudogout of the spine on the differential list when such cases are encountered. As a result, patients can be initiated on benign anti-inflammatory agents, avoiding invasive testing and unnecessary antibiotic exposure.
| S-EPMC7035534 | biostudies-literature
Project description: Not available
| S-EPMC11909466 | biostudies-literature
Project description:ObjectiveCalcium pyrophosphate deposition (CPPD) disease is prevalent and has diverse presentations, but there are no validated classification criteria for this symptomatic arthritis. The American College of Rheumatology (ACR) and EULAR have developed the first-ever validated classification criteria for symptomatic CPPD disease.MethodsSupported by the ACR and EULAR, a multinational group of investigators followed established methodology to develop these disease classification criteria. The group generated lists of candidate items and refined their definitions, collected de-identified patient profiles, evaluated strengths of associations between candidate items and CPPD disease, developed a classification criteria framework, and used multi-criterion decision analysis to define criteria weights and a classification threshold score. The criteria were validated in an independent cohort.ResultsAmong patients with joint pain, swelling, or tenderness (entry criterion) whose symptoms are not fully explained by an alternative disease (exclusion criterion), the presence of crowned dens syndrome or calcium pyrophosphate crystals in synovial fluid are sufficient to classify a patient as having CPPD disease. In the absence of these findings, a score >56 points using weighted criteria, comprising clinical features, associated metabolic disorders, and results of laboratory and imaging investigations, can be used to classify as CPPD disease. These criteria had a sensitivity of 92.2% and specificity of 87.9% in the derivation cohort (190 CPPD cases, 148 mimickers), whereas sensitivity was 99.2% and specificity was 92.5% in the validation cohort (251 CPPD cases, 162 mimickers).ConclusionThe 2023 ACR/EULAR CPPD disease classification criteria have excellent performance characteristics and will facilitate research in this field.
| S-EPMC10543651 | biostudies-literature