Volume 29, Issue 166, December 2025

The role of genetic diagnosis in the prevention of Paget's Disease of Bone Type 3 - A review of the literature

Żanna Gawrysz^1♦, Joanna Gaik², Stanisław Derewjanko², Karolina Capar², Julia Woźniak², Zofia Cholewa²

¹Department of Plastic and Burns Surgery, Multispecialty Hospital in Nowa Sól, ul. Chałubińskiego 7, 67-000 Nowa Sól, Poland
²Collegium Medicum of the University of Zielona Góra, ul. Zyty 28, 65-046 Zielona Góra, Poland

^♦Corresponding author
Department of Plastic and Burns Surgery, Multispecialty Hospital in Nowa Sól, ul. Chałubińskiego 7, 67-000 Nowa Sól, Poland

ABSTRACT

Paget's disease of bone is a chronic condition that affects the typical structure and turnover of specific bones. Inherited forms, especially type 3, are commonly associated with mutations in the SQSTM1 gene. Although Paget's disease of bone has a genetic basis, it is usually diagnosed late, reducing treatment effectiveness. This review highlights why early genetic testing matters to prevent and manage Paget's disease of bone type 3, focusing on recent research, especially the Zoledronate in the Prevention of Paget's Disease trial. Traditionally, Paget's disease of bone is treated with bisphosphonates once symptoms appear. The earlier SQSTM1 mutations are found in symptom-free individuals, allowing for earlier treatment. The research found that preventive use of zoledronic acid in people with these mutations might slow down or even halt the disease. These results support adding genetic testing to routine care for those at risk and highlight the move toward being proactive in medicine, instead of just reacting to problems as they arise. The study shows that beginning treatment before symptoms develop - by catching genetic mutations early - could benefit patients.

Keywords: Paget's disease of bone, PDB3, SQSTM1, genetic diagnostics, Sanger sequencing.

Medical Science, 2025, 29, e226ms3686

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Published: 21 December 2025