Paget disease of the bone: Does it exist in Saudi Arabia?

Alshaikh, Omalkhaire M.; Almanea, Hadeel; Alzahrani, Ali S.

doi:10.4103/0256-4947.75588

Cited by 8 publications

(3 citation statements)

References 23 publications

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“…Six of the cases [ 10 ] were confirmed on computed tomography of the pelvis: demonstration of cortical and trabecular thickening as well as areas of lysis. The seventh case was reported in a case series regarding Paget disease in Saudi Arabia [ 11 ]. This male patient presented with sacroiliac pain with normal laboratory findings.…”

Section: Discussionmentioning

confidence: 99%

Sacroiliitis mimics: a case report and review of the literature

Antonelli

Magrey

2017

BMC Musculoskelet Disord

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BackgroundRadiographic sacroiliitis is the hallmark of ankylosing spondylitis (AS), and detection of acute sacroiliitis is pivotal for early diagnosis of AS. Although radiographic sacroiliitis is a distinguishing feature of AS, sacroiliitis can be seen in a variety of other disease entities.Case presentationWe present an interesting case of sacroiliitis in a patient with Paget disease; the patient presented with inflammatory back pain which was treated with bisphosphonate. This case demonstrates comorbidity with Paget disease and possible ankylosing spondylitis. We also present a review of the literature for other cases of Paget involvement of the sacroiliac joint.ConclusionsIn addition, we review radiographic changes to the sacroiliac joint in classical ankylosing spondylitis as well as other common diseases. We compare and contrast features of other diseases that mimic sacroiliitis on a pelvic radiograph including Paget disease, osteitis condensans ilii, diffuse idiopathic skeletal hyperostosis, infections and sarcoid sacroiliitis. There are some features in the pelvic radiographic findings which help distinguish among mimics, however, one must also rely heavily on extra-pelvic radiographic lesions. In addition to the clinical presentation, various nuances may incline a clinician to the correct diagnosis; rheumatologists should be familiar with the imaging differences among these diseases and classic spondylitis findings.Electronic supplementary materialThe online version of this article (doi:10.1186/s12891-017-1525-1) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Sacroiliitis mimics: a case report and review of the literature

Antonelli

Magrey

2017

BMC Musculoskelet Disord

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“…Among Middle East Arabians in southern Israel revealed a 1% prevalence of PDB, comparable to southern Europe. In Saudi Arabia, Iran, Iraq, and Turkey, few isolated case reports of PDB have been recorded ( Alshaikh et al, 2011 ; Merashli and Jawad, 2015 ; Michou and Orcel, 2019 ). The above epidemiological data confirms that there is marked geographical variation in the occurrence of PDB.…”

Section: Epidemiology Of Pdbmentioning

confidence: 99%

Paget’s disease: a review of the epidemiology, etiology, genetics, and treatment

et al. 2023

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Paget’s disease of bone (PDB) is the second most prevalent metabolic bone disorder worldwide, with a prevalence rate of 1.5%–8.3%. It is characterized by localized areas of accelerated, disorganized, and excessive bone production and turnover. Typically, PDB develops in the later stages of life, particularly in the late 50s, and affects men more frequently than women. PDB is a complex disease influenced by both genetic and environmental factors. PDB has a complex genetic basis involving multiple genes, with SQSTM1 being the gene most frequently associated with its development. Mutations affecting the UBA domain of SQSTM1 have been detected in both familial and sporadic PDB cases, and these mutations are often associated with severe clinical expression. Germline mutations in other genes such as TNFRSF11A, ZNF687 and PFN1, have also been associated with the development of the disease. Genetic association studies have also uncovered several PDB predisposing risk genes contributing to the disease pathology and severity. Epigenetic modifications of genes involved in bone remodelling and regulation, including RANKL, OPG, HDAC2, DNMT1, and SQSTM1, have been implicated in the development and progression of Paget’s disease of bone, providing insight into the molecular basis of the disease and potential targets for therapeutic intervention. Although PDB has a tendency to cluster within families, the variable severity of the disease across family members, coupled with decreasing incidence rates, indicates that environmental factors may also play a role in the pathophysiology of PDB. The precise nature of these environmental triggers and how they interact with genetic determinants remain poorly understood. Fortunately, majority of PDB patients can achieve long-term remission with an intravenous infusion of aminobisphosphonates, such as zoledronic acid. In this review, we discuss aspects like clinical characteristics, genetic foundation, and latest updates in PDB research.

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“…However, the biopsy and the radiologic appearance are in favor. Paget’s disease of bone has rarely been reported in the Kingdom of Saudi Arabia 2 and the Middle East, 3 and is very rare under the age of 45 years. 4 The reported patient with the pathological fracture is a Saudi native and is only 42-years-old.…”

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confidence: 99%