Diagnosis and treatment of Paget’s disease of bone: position paper from the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS)

• Published in: Journal of endocrinological investigation Vol. 47; no. 6; pp. 1335 - 1360
• Main Authors: Rendina, D., Falchetti, A., Diacinti, D., Bertoldo, F., Merlotti, D., Giannini, S., Cianferotti, L., Girasole, G., Di Monaco, M., Gonnelli, S., Malavolta, N., Minisola, S., Vescini, F., Rossini, M., Frediani, B., Chiodini, I., Asciutti, F., Gennari, L.
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01-06-2024
• Subjects: Bone Density Conservation Agents - therapeutic use; Diphosphonates - therapeutic use; Endocrinology; Humans; Internal Medicine; Italy - epidemiology; Medicine; Medicine & Public Health; Metabolic Diseases; Original; Original Article; Osteitis Deformans - diagnosis; Osteitis Deformans - drug therapy; Osteitis Deformans - epidemiology; Osteitis Deformans - therapy; Societies, Medical - standards; Italy; Bone deformities; Biochemical diagnosis of Paget’s disease of bone; Genetics of Paget’s disease of bone; Metabolic bone diseases; Paget’s disease of bone; Fragility fractures; Clinical diagnosis of Paget’s disease of bone; Complications of Paget’s disease of bone; Paget’s guidelines; Therapy of Paget’s disease of bone; Radiological diagnosis of Paget’s disease of bone
• ISSN: 1720-8386; 0391-4097; 1720-8386
• DOI: 10.1007/s40618-024-02318-1

Introduction
Paget’s disease of bone is a focal skeletal disorder causing bone deformities and impairing bone quality. Despite the prevalence of asymptomatic cases is increasing, the progression of the disease can lead to invalidating complications that compromise the quality of life. Doubts on clinical and therapeutic management aspects exist, although beneficial effects of antiresorptive drugs, particularly bisphosphonates are known. However, limited information is available from randomized controlled trials on the prevention of disease complications so that somewhat contrasting positions about treatment indications between expert panels from the main scientific societies of metabolic bone diseases exist. This task force, composed by expert representatives appointed by the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases and members of the Italian Association of Paget’s disease of bone, felt the necessity for more specific and up to date indications for an early diagnosis and clinical management.
Methods
Through selected key questions, we propose evidence-based recommendations for the diagnosis and treatment of the disease. In the lack of good evidence to support clear recommendations, available information from the literature together with expert opinion of the panel was used to provide suggestions for the clinical practice.
Results and conclusion
Description of the evidence quality and support of the strength of the statements was provided on each of the selected key questions. The diagnosis of PDB should be mainly based on symptoms and the typical biochemical and radiological features. While treatment is mandatory to all the symptomatic cases at diagnosis, less evidence is available on treatment indications in asymptomatic as well as in previously treated patients in the presence of biochemical recurrence. However, given the safety and long-term efficacy of potent intravenous bisphosphonates such as zoledronate, a suggestion to treat most if not all cases at the time of diagnosis was released.