Diagnostic and therapeutic practices in adult chronic nonbacterial osteomyelitis (CNO)

Orphanet Journal of Rare Diseases

Research

E. Koutrouba¹  N. M. Appelman-Dijkstra¹  E. M. Winter¹  A. T. Leerling¹  O. M. Dekkers²  G. Clunie³ 

[1] Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands;Center for Bone Quality, Leiden University Medical Center, Leiden, the Netherlands;Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands;Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands;Department of Rheumatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK;

关键词: Chronic nonbacterial osteomyelitis;    SAPHO;    Sternocostoclavicular hyperostosis;    Pustulotic arthro-osteitis;    Diagnostics;    Treatment;    Survey;   

DOI  :  10.1186/s13023-023-02831-1

 received in 2023-02-23, accepted in 2023-07-12,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundChronic nonbacterial osteomyelitis (CNO) is a rare, and impactful auto-inflammatory bone disease occurring in children and adults. Clinical care for CNO is challenging, as the condition lacks validated classification criteria and evidence-based therapies. This study aimed to map the current diagnostic and therapeutic practices for CNO in adults, as a first step towards a standardized disease definition and future consensus treatment plans.MethodsA primary survey was spread among global rheumatological/bone networks and 57 experts as identified from literature (May 2022), covering terminology, diagnostic tools (clinical, radiological, biochemical) and treatment steps. A secondary survey (sent to primary survey responders in August 2022) further queried key diagnostic features, treatment motivations, disease activity and treatment response monitoring.Results36 and 23 physicians completed the primary and secondary survey respectively. Diagnosis was mainly based on individual physician assessment, in which the combination of chronic relapsing-remitting bone pain with radiologically-proven osteitis/osteomyelitis, sclerosis, hyperostosis and increased isotope uptake on bone scintigraphy were reported indicative of CNO. Physicians appeared more likely to refer to the condition as synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome in the presence of joint and skin pathology. MRI was most frequently performed, and the preferred diagnostic test for 47%. X-rays were second-most frequently used, although considered least informative of all available tools. Typical imaging features reported were hyperostosis, osteitis, osteosclerosis, bone marrow edema, while degeneration, soft tissue calcification, and ankylosis were not regarded characteristic. Inflammation markers and bone markers were generally regarded unhelpful for diagnostic and monitoring purposes and physicians infrequently performed bone biopsies. Management strategies diverged, including indications for treatment, response monitoring and declaration of remission. Step-1 treatment consisted of non-steroidal anti-inflammatory drugs/COX-2 inhibitors (83%). Common step 2–3 treatments were pamidronate, methotrexate, and TNF-a-inhibition (anti-TNFα), the latter two regarded especially convenient to co-target extra-skeletal inflammation in SAPHO syndrome. Overall pamidronate and anti-TNFα and were considered the most effective treatments.ConclusionsFollowing from our survey data, adult CNO is a broad and insufficiently characterized disease spectrum, including extra-osseous features. MRI is the favoured imaging diagnostic, and management strategies vary significantly. Overall, pamidronate and anti-TNFα are regarded most successful. The results lay out current practices for adult CNO, which may serve as backbone for a future consensus clinical guideline.

【 授权许可】

CC BY   
© The Author(s) 2023

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