Paget's disease of bone: Epidemiology, pathogenesis and pharmacotherapy

Luigi Gennari, Daniela Merlotti, Domenico Rendina, Fernando Gianfrancesco, Teresa Esposito, Ranuccio Nuti

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Introduction: Paget's disease of bone (PDB) is a chronic disorder of bone turnover, characterized by increased osteoclast-mediated bone resorption and subsequent compensatory increase in new bone formation, resulting in a disorganized mosaic of woven and lamellar bone at the affected skeletal sites. As a result, bone pain, osteoarthritis, noticeable deformities, nerve compression syndromes, fractures and, less frequently, neoplastic degeneration can occur. Areas covered: The published literature has been critically appraised, focusing on three main areas: epidemiology, pathogenesis (particularly regarding SQSTM1 mutations and other genetic aspects) and treatment of PDB. Expert opinion: Over the last two decades, there have been major advances in our understanding of pathogenesis and management of PDB. Mutations in SQSTM1 gene (encoding p62) have been identified in a consistent proportion of familial cases and treatment opportunities have been recently improved with the use of intravenous aminobisphosphonate regimens, allowing long-term remission of the disease. However, further research is needed to explore: i) the molecular mechanisms leading to PDB in SQSTM1 mutation carriers; ii) the genetic cause of the disease in SQSTM1-negative patients; and iii) to identify in more detail the environmental triggers and the mechanisms by which they interact with genetic background to influence susceptibility to the disease.

Original languageEnglish
Pages (from-to)591-603
Number of pages13
JournalExpert Opinion on Orphan Drugs
Volume2
Issue number6
DOIs
Publication statusPublished - 2014

Fingerprint

Osteitis Deformans
Epidemiology
Drug Therapy
Mutation
Nerve Compression Syndromes
Compression Fractures
Bone and Bones
Inborn Genetic Diseases
Bone Remodeling
Disease Susceptibility
Expert Testimony
Osteoclasts
Bone Resorption
Osteogenesis
Osteoarthritis
Pain
Therapeutics
Research
Genes

Keywords

  • Bisphosphonates
  • Bone turnover
  • Paget's disease of bone
  • Sequestosome 1/p62

ASJC Scopus subject areas

  • Pharmacology (medical)
  • Health Policy
  • Pharmacology, Toxicology and Pharmaceutics (miscellaneous)

Cite this

Gennari, L., Merlotti, D., Rendina, D., Gianfrancesco, F., Esposito, T., & Nuti, R. (2014). Paget's disease of bone: Epidemiology, pathogenesis and pharmacotherapy. Expert Opinion on Orphan Drugs, 2(6), 591-603. https://doi.org/10.1517/21678707.2014.904225

Paget's disease of bone : Epidemiology, pathogenesis and pharmacotherapy. / Gennari, Luigi; Merlotti, Daniela; Rendina, Domenico; Gianfrancesco, Fernando; Esposito, Teresa; Nuti, Ranuccio.

In: Expert Opinion on Orphan Drugs, Vol. 2, No. 6, 2014, p. 591-603.

Research output: Contribution to journalArticle

Gennari, L, Merlotti, D, Rendina, D, Gianfrancesco, F, Esposito, T & Nuti, R 2014, 'Paget's disease of bone: Epidemiology, pathogenesis and pharmacotherapy', Expert Opinion on Orphan Drugs, vol. 2, no. 6, pp. 591-603. https://doi.org/10.1517/21678707.2014.904225
Gennari, Luigi ; Merlotti, Daniela ; Rendina, Domenico ; Gianfrancesco, Fernando ; Esposito, Teresa ; Nuti, Ranuccio. / Paget's disease of bone : Epidemiology, pathogenesis and pharmacotherapy. In: Expert Opinion on Orphan Drugs. 2014 ; Vol. 2, No. 6. pp. 591-603.
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