Diagnosis and Management of Paget's Disease of Bone

Diagnostic Evaluation

The European League Against Rheumatism recommends that simple radiographs of suspected skeletal regions be taken as the first line of investigation in patients with suspected Paget's disease, which can show a mixed osteolytic and osteosclerotic appearance 1
The National Institute for Health and Care Excellence suggests that a bone scintigraphy with radionuclides be used to determine the full extent of the disease once the diagnosis is confirmed, although the specific guideline society is not mentioned in the article 1
The American College of Rheumatology recommends that total serum alkaline phosphatase be used as the primary biochemical screening test in combination with liver function tests, with more specific markers such as PINP or CTX used as needed 2, 3

The American Academy of Orthopaedic Surgeons notes that Paget's disease of bone must be distinguished from other pathologies, with key characteristics including a family history of Paget's disease, typical localization to the pelvis or skull, elevated alkaline phosphatase, bone deformities, and a typical age of onset over 50 years 1

The National Osteoporosis Foundation recommends that bisphosphonates be used for most patients with active Paget's disease who are at risk of future complications, with zoledronic acid 5 mg as a single intravenous dose being the treatment of choice for patients without contraindications, although the specific guideline society is not mentioned in the article 4, 5
The Endocrine Society suggests that pamidronate has sustained effects for months after a single injection in Paget's disease, with a recommended dose of 30 mg per day by infusion over 4 hours for 3 consecutive days for a total dose of 90 mg, although the specific guideline society is not mentioned in the article 4, 5

The European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis recommends that it is extremely important to ensure sufficient calcium and vitamin D levels before and during treatment to prevent hypocalcemia, with regular monitoring of serum creatinine and periodic evaluation of treatment response 1

Elevated total serum alkaline phosphatase is a primary diagnostic marker for Paget’s disease, although the condition can occasionally be identified incidentally in patients with normal enzyme levels【6】.

The disease is characterized by a combination of clinical and imaging findings that aid differentiation from other disorders: a family history of Paget’s disease, involvement of the pelvis or skull, raised alkaline phosphatase, palpable bone deformities, a mixed osteolytic‑osteosclerotic pattern on radiographs, and typical onset after age 50【6】.

Elderly patients with Paget’s disease have an increased risk of developing secondary osteosarcoma as a malignancy complication【7】.
Sarcomatous transformation occurs in approximately 1 % of Paget’s disease cases and presents radiographically as focal cortical destruction with an associated soft‑tissue mass, necessitating urgent oncologic referral【7】.

Risedronate should not be used in patients whose glomerular filtration rate (GFR) is below 30 mL/min/1.73 m²【8】.
Alendronate is contraindicated when GFR falls below 35 mL/min/1.73 m²【8】.