Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review

Couto, Ana Rita; Parreira, Bruna; Power, Deborah M.; Pinheiro, Luís Menezes; Dias, João Madruga; Novofastovski, Irina; Eshed, Iris; Sarzi‐Puttini, Piercarlo; Pappone, N.; Atzeni, Fabiola; Verlaan, Jorrit‐Jan; Kuperus, J.; Bieber, Amir; Ambrosino, Pasquale; Kiefer, David; Khan, Muhammad Asim; Mader, Reuven; Baraliakos, Xenofon; Bruges-Armas, Jácome

doi:10.3389/fgene.2022.987867

Cited by 4 publications

(3 citation statements)

References 144 publications

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“…Recently, genetic polymorphisms have been associated with DISH. 28 29 As such, genetic factors may be a critical feature that differentiates those at risk of advanced pathological mineralisation which may be independent of biological sex. The relative role of these potential underlying factors in the onset, progression and overall prevalence of DISH warrants further investigation.…”

Section: Discussionmentioning

confidence: 99%

Spatiotemporal changes in imaging features associated with diffuse idiopathic skeletal hyperostosis (DISH)

Fournier,

Battie,

Séguin

2024

RMD Open

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ObjectivesThe purpose of our study was to characterise spatiotemporal features of disease progression in people with diffuse idiopathic skeletal hyperostosis (DISH), early-phase DISH, and those not meeting either criterion who had repeated CT scans of the thoracic spine.MethodsA retrospective study was designed in collaboration with theRochester Epidemiology Projectto evaluate completeness of ectopic bridging across the thoracic spine and corresponding disease status over an average of 2.7 years (range from 0.2 to 15.0 years) in a cohort of 83 female and 74 male individuals.ResultsOver 15% of individuals displayed changes in imaging features over time that resulted in a revised diagnosis along the continuum of DISH. Early-phase DISH was marked by new involvement of previously unaffected motion segments, estimated to occur over 2.1 years. Advanced presentations of DISH were marked by increased prevalence of complete bridging (average two of three available motion segments), estimated to occur over 2.6–2.9 years. Localised nodules of ectopic mineralisation external to and within the intervertebral disc were regularly observed in early-phase DISH.ConclusionsThis is the first characterisation of spatiotemporal features across all phases of DISH, indicating that progression of DISH is characterised by distinct features at different phases along the disease continuum. Localised nodules of mineralisation in the spinal ligaments and within the intervertebral discs coincident with early phases of the disease may be a key factor in the pathogenesis of DISH.

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Section: Discussionmentioning

confidence: 99%

Spatiotemporal changes in imaging features associated with diffuse idiopathic skeletal hyperostosis (DISH)

Fournier,

Battie,

Séguin

2024

RMD Open

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“…Histopathologically, the following findings are characteristic of the disease: focal and diffuse ossification of the anterior longitudinal ligament and paraspinal connective tissue, ossification of the anulus fibrosus with degeneration of its peripheral fibers, hypervascularity, chronic infiltration with inflammato-ry cells, and periosteal ossification on the anterior surface of the vertebral bodies [6]. Recent studies regarding the complex etiopathogenesis of DISH have focused on the presence of a genetic predisposition, but a direct pathogenetic link between a particular genotype variant and the disease has not been demonstrated [7]. In a study by Parreira evidence of familial predisposition to the disease was found, pointing out to the presence of a genetic predispo-…”

Section: Discussionmentioning

confidence: 99%

Case report: a rare combination of diffuse idiopathic skeletal hyperostosis and cervical septic spondylodiscitis

Shakir,

Tsonev,

Ninov

et al. 2024

RBJ

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Ossification of the anterior longitudinal ligament of the spine is a rare pathology with still unclear etiopathogenesis, although some authors associate it with metabolic diseases such as diabetes. Another rare disorder whose etiopathogenesis is also closely related to immunological disorders in diabetes is spinal epidural empyema. We present a case of a 62-year-old man with comorbidities of arterial hypertension and type II diabetes mellitus, with complaints of dysphagia and throat discomfort one and a half years prior to hospitalization. About a month before hospitalization, the patient reports pain with limited cervical mobility, followed by episodes of fever up to 38°C, with developing upper extremity muscle weakness and self-care incapacity. After imaging and laboratory studies, the patient was diagnosed with Forestier disease according to Resnick and Niwayama criteria, with ossification of the anterior longitudinal ligament and spondylodiscitis with epidural empyema in the cervical compartment. The patient was started on empiric antibiotic therapy and emergency surgery was undertaken for osteophytectomy, median corpectomy with medullar decompression and vertebrodesis. Postoperatively, the patient had improvement in dysphagia and upper extremity muscle strength - MRC 5/5 at the 6-month follow-up. Timely diagnosis and operative treatment with adequate decompression, anterior vertebrodesis and subsequent targeted antibiotic therapy are essential for a good outcome in the management of patients with this combined pathology.

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“…Associations between DISH and dyslipidaemia or hyperuricaemia are also reported [52,62]. In comparison, HLA-B27 plays no role in the pathogenesis of DISH [63].…”

Section: Similarities and Differences In Ethiopathogenesismentioning

confidence: 92%

Diffuse idiopathic skeletal hyperostosis and axial spondyloarthritis—similarities and differences

Kiefer,

Khan,

Baraliakos

2023

Explor Musculoskeletal Dis

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Diffuse idiopathic skeletal hyperostosis (DISH) and axial spondyloarthritis (axSpA) are diseases with inflammatory involvement of the axial skeleton that can result in new bone formation that may lead to total ankylosis of the spine and functional impairment of different extent in individual patients. In these diseases, the new bone formation may lead to total ankylosis of the spine and impaired mobility with functional impairment. This review will highlight the similarities and differences of these two conditions. In axSpA, the genetic background with the association with human leukocyte antigen-B27 (HLA-B27) is known for 50 years, while in DISH, a genetic contribution is not yet proven. The phenotype of new bone formation and its anatomic features are different between these diseases. In axSpA symmetric, thin and marginal syndesmophytes representing an ossification of enthesitic inflammation at the area of the attachment of the annulus fibrosus that may extend to the adjacent deeper layers anterior longitudinal ligament and are typical, while in DISH the so-called “chunky bridging osteophytes” grow as an additional layer on the anterior longitudinal ligament. Besides distinct anamnestic and clinical features, magnetic resonance imaging is helpful differentiating the two diseases since inflammatory changes with the typical pattern of axSpA are reliably visualized. Similar in both diseases is the high prevalence of vertebral fractures, which are mainly caused by the local osteoporosis and decreased flexibility of the affected bones, and therefore may occur even after minor traumata. The presence of extraarticular manifestations like uveitis, inflammatory bowel disease or psoriasis are only linked to axSpA. In contrast, DISH is associated with obesity, diabetes mellitus, and other metabolic diseases. Although DISH and axSpA are distinct conditions, the cooccurrence of these two diseases exists in some patients. Various therapeutic options are becoming available for axSpA, but no therapy has been approved for DISH yet.

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Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review

Cited by 4 publications

References 144 publications

Spatiotemporal changes in imaging features associated with diffuse idiopathic skeletal hyperostosis (DISH)

Spatiotemporal changes in imaging features associated with diffuse idiopathic skeletal hyperostosis (DISH)

Case report: a rare combination of diffuse idiopathic skeletal hyperostosis and cervical septic spondylodiscitis

Diffuse idiopathic skeletal hyperostosis and axial spondyloarthritis—similarities and differences

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