Is Paget's disease a form of cancer?

No. Paget's disease is a benign disorder of bone remodelling. Very rarely (in well under 1 percent of people with the condition) a bone sarcoma develops in an affected bone, which is why sudden worsening pain or swelling in a Pagetic bone should be checked promptly.

Do I need treatment if I have no symptoms?

Not always. If the disease is inactive or affects a bone where complications are unlikely, monitoring may be all that is needed. Treatment is usually recommended when there is pain, when the skull, spine or weight-bearing bones are involved, or when bone turnover markers are high, because treatment can prevent deformity, fracture and nerve problems.

How effective is bisphosphonate treatment?

Very effective. A single infusion of zoledronic acid normalizes bone turnover in most people and the effect often lasts for years. Existing deformity does not reverse, but further damage is prevented and pain from active disease usually improves. Blood tests are used to check for any return of activity.

MusculoskeletalICD-10: M88Uncommon; affects a small percentage of people over 50, with higher rates in the UK and among people of British descent

Paget's Disease of Bone

Also known as: Osteitis deformans, Paget disease

Paget's disease of bone is a chronic disorder in which the normal cycle of bone renewal becomes disrupted. Bone is broken down too quickly and then rebuilt in a disorganized, enlarged and weaker form. It most often affects the pelvis, spine, skull, femur and tibia, and may involve one bone or several. Many people have no symptoms and are diagnosed by chance from an X-ray or a blood test showing raised alkaline phosphatase. When symptoms occur they include bone pain, deformity such as bowing of the legs, arthritis in nearby joints, and, if the skull is involved, hearing loss or headaches. It mainly affects people over 50 and is more common in the UK and in people of British descent. Bisphosphonate medications can control the overactive bone turnover effectively.

At a Glance

Common symptoms: Deep, aching bone pain, often worse at night or at rest, Enlargement or deformity of bones, such as bowed legs or an enlarged skull, Joint pain and stiffness from arthritis in joints next to affected bone
Main treatments: Bisphosphonate medication (most often a single intravenous infusion of zoledronic acid) to suppress abnormal bone turnover, often giving long-lasting remission, Pain relief with acetaminophen or anti-inflammatory drugs, Calcitonin injections for people who cannot take bisphosphonates
Category: Musculoskeletal · Uncommon; affects a small percentage of people over 50, with higher rates in the UK and among people of British descent
See a doctor if: Persistent, deep bone or joint pain, especially in the hip, pelvis, spine or legs

Symptoms

Deep, aching bone pain, often worse at night or at rest

Enlargement or deformity of bones, such as bowed legs or an enlarged skull

Joint pain and stiffness from arthritis in joints next to affected bone

Hearing loss or headaches when the skull is involved

Warmth over an affected bone due to increased blood flow

Tingling, numbness or weakness if enlarged bone presses on nerves

Fractures in weakened bone

Causes

Abnormally overactive bone-resorbing cells (osteoclasts), followed by rapid, chaotic bone formation
Genetic mutations, particularly in the SQSTM1 gene, found in a significant proportion of familial cases
A possible role for slow viral infections, which is debated and unproven
Environmental factors, suggested by the declining incidence in recent decades
The exact trigger in most sporadic cases is unknown

Risk Factors

Age over 50; risk rises with age
A family history of Paget's disease, which raises risk considerably
British, western European or Australian and New Zealand descent
Being male (slightly more common in men)

Diagnosis

X-rays showing the characteristic enlarged, thickened and disorganized bone
Blood tests showing raised alkaline phosphatase with normal calcium and phosphate
A bone scan to identify all affected bones
CT or MRI if nerve compression or a complication is suspected
Occasionally a bone biopsy to exclude other conditions

Treatment

Bisphosphonate medication (most often a single intravenous infusion of zoledronic acid) to suppress abnormal bone turnover, often giving long-lasting remission
Pain relief with acetaminophen or anti-inflammatory drugs
Calcitonin injections for people who cannot take bisphosphonates
Physiotherapy, walking aids or orthotics to manage deformity and joint strain
Surgery for fractures, severe arthritis (joint replacement), nerve compression or significant bowing of a leg
Hearing aids if the skull is affected
Supportive: adequate calcium and vitamin D, which are also essential before bisphosphonate treatment

Prevention

There is no known way to prevent Paget's disease, but early treatment prevents complications
Tell your doctor if a close relative has Paget's disease so you can be monitored
Keep active with low-impact exercise to maintain bone and joint health
Ensure adequate calcium and vitamin D
Avoid falls and protect weakened bones from injury

When to See a Doctor

Persistent, deep bone or joint pain, especially in the hip, pelvis, spine or legs
A visible change in the shape of a bone, bowing of a leg, or an increase in hat size
New hearing loss, persistent headache or facial numbness
Numbness, weakness or trouble walking, which could mean nerve compression
A sudden increase in pain or swelling in a bone already affected by Paget's disease, which rarely signals a bone tumour

Frequently Asked Questions

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