GPAtlas🧭 When to suspect
Paget's disease of bone (PDB) is a focal disorder of bone remodelling in which excessive, disorganised osteoclastic resorption is followed by exuberant but structurally poor osteoblastic new bone. The result is enlarged, deformed, mechanically weak and highly vascular bone. It is the second most common metabolic bone disease after osteoporosis, and it never involves the whole skeleton.
PDB is rare under 50 and becomes progressively more common with age. It is slightly commoner in men, shows a strong link to British and European ancestry, and can run in families (autosomal dominant, often through the SQSTM1 gene). The great majority of patients are asymptomatic – roughly one in five are picked up incidentally through an isolated raised alkaline phosphatase (ALP) with otherwise normal liver function, or on imaging requested for something else.
Raise suspicion in an older adult with deep, aching bone pain (often worse at rest or at night), bone deformity (a bowed tibia, an enlarging skull or hat size, frontal bossing), localised bony warmth, new hearing loss, or that incidental raised ALP. The two clinical tasks are to confirm and map the disease (ALP plus imaging) and to not miss its complications – above all, malignant change.
| Affected region | What to watch for |
|---|---|
| Pelvis (commonest) | Hip or groin pain; secondary osteoarthritis of the hip. |
| Femur / tibia (long bones) | Anterior bowing ("sabre tibia"); fissure or pathological fracture; secondary osteoarthritis of hip or knee. |
| Skull | Enlarging skull and frontal bossing; headache; hearing loss or tinnitus from eighth-nerve involvement. |
| Spine (usually lumbar) | Back pain; spinal stenosis; nerve-root or cord compression. |
| Any long-standing site | A new focal pain or a new soft-tissue mass = osteosarcoma until proven otherwise. |
|
⚠️ Common pitfall It is tempting to attribute every new ache in someone with known Paget's to the disease itself. But malignant change, although rare, presents in exactly this way – a new, localised, worsening pain or a new lump over a long-affected bone, typically in a patient over 70. Treat such a change as osteosarcoma until imaging says otherwise, rather than simply reaching for stronger analgesia or a bisphosphonate. |
Source: Paget's Association Clinical Guideline
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