Pathological fracture due to Paget’s disease of bone

Merashli, Mira; Jawad, Ali

doi:10.15537/smj.2015.6.12169

Cited by 1 publication

(1 citation statement)

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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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Section: Epidemiology Of Pdbmentioning

confidence: 99%