Band 5 IST Paget’s Disease of Bone Rónán Donohoe, 16 June ‘10

Paget's Disease of Bone (PDB) / Osteitis Deformans

Outline:

1. What is it?
2. Facts & Figures
3. Physiology & Clinical Features
4. Diagnosis
5. Treatment

1. What is it?
• A metabolic bone disease occurring in the middle aged and elderly characterized by excessive
resorption followed by excessive unrestricted bone formation
• Slow progressive problem affecting one or several bones but never crossing joint space
• Sometimes leading to bone pain, fractures and skeletal deformities typically in the pelvis, spine,
hips, thighs and skull
• Causes of Paget’s disease are unknown, but it has been suggested that it could be triggered by a
combination of environmental and genetic factors

Exact cause of Paget's disease is unknown, although thought may be due to slow, viral bone infection
or genetically linked.

2. Facts & Figures

• First described by Sir James Paget (1814-1899) in 1876
• Paget's disease is the second most common metabolic bone disease to osteoporosis
• Paget's disease affects approximately 2% to 5% of the population older than 55, and seen in 8-10%
of the population over the age of 80 years old (wide variations in estimates)
• Paget's disease affects men more than woman by a 3:2 ratio
• 40% of the individuals with Paget's disease have first-degree relatives with Paget's disease
• High prevalence in NorthWest England with up to 8.3% in Lancashire (in1980 study by Barker et
al.) but virtually unknown in some populations e.g. Norway and Japan
• Recently, the prevalence of Paget's disease has decreased by 50% of the prevalence in 1983

3. Physiology & Clinical Features

• Caused by marked increase in bone turnover in parts of the skeleton, resulting in the development
of structurally weak abnormal bone, with an increased risk of pain, fracture, deformity, osteoarthritis
of the large joints and deafeness
• Larger osteoclasts resorbing bone more rapidly and in response, osteoblasts deposit new bone at
an increasingly rapid rate.
• Normal bone marrow is replaced by increased and unorganized collagen and fibrous tissue, which
lacks the structural stability of normal bone. As a consequence the bone may increase in size but
its structure will be abnormal and weaker than normal.
• This increased bone mass formation leads to increased risk of fractures, arthritis, deformities and
pain.

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Band 5 IST Paget’s Disease of Bone Rónán Donohoe, 16 June ‘10

Common Presentation
May often present as asymptomatic and only detected through radiographs or laboratory tests which are
ordered for other reasons. Clinical presentation can varies greatly, due to the different levels of severity.

Musculoskeletal
• Bone pain presenting as constant, deep, and aching.
- Aching pain worse at night (when the limbs are warm) that decreases with physical activity
• Warmth over the affected bone or joint (as much as 6x temp as normal bone, Rongstad et al 1994)
• Bone deformities such as bowlegs, increased skull size, Kyphoscoliosis, increased risk #s
• Joint pain including swelling and stiffness may present due to the damage of the cartilage lining the
joints near the affected bones.

Neurological
• Facial weakness or numbness, hearing loss, and double vision.
• Loss of bowel or bladder control which may indicate spinal cord damage.
• Pain due to a compressed nerve root, sharp pain, numbness, tingling, weakness.

Cardiovascular
• Heart failure due to increased c.o. (when 1/3 to 1/2 of the skeleton is involved)
• Increased vascularity (causing increased skin temperature around affected area)
• Increased cardiac output

Other
• Overall fatigue due to hypercalcemia
• Kidney Stones
• Vertigo, dizziness
• Tinnitus or Hearing loss (due to increased temporal bone mass and 8th spinal nerve compression)
• Loose teeth

4. Diagnosis
Paget disease may be diagnosed using one or more of the following:

• Radiographic Imaging: Plain X-Ray in at least one skeletal area (usually painful area). Pagetic bone
has a characteristic appearance on x-rays
• Isotopic Bone Scan (Scintigraphy) are more sensitive radiographic images which highlight affected
areas of Paget's disease, but the Scintigraphy is only positive if the condition is active.
- recommended for patients with symptomatic and asymptomatic Paget's disease to determine
the severity and involvement of the skeletal structures.
- can also be used to monitor a patient's therapeutic response to therapy
• A Bone Biopsy may also be performed (especially if the X-ray and CT scan are negative) to make a
differential diagnosis (rule out hyperparathyroidism, bone metastasis, multiple myeloma, etc)
• Biochemical Tests: Serum Alkaline Phosphatase (SAP) is an enzyme that is produced by bone cells
and are excessively produced in bone containing Paget's disease. 85% of patients have elevated SAP.

NOT routinely used: MRI, DXA, or CT

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Band 5 IST Paget’s Disease of Bone Rónán Donohoe, 16 June ‘10

a) b)

a) Scintigraphy: A diagnostic test in which a two-dimensional picture of a body radiation source is

obtained through the use of radioisotopes
b) Radiograph of Bowing Tibia in Patient with Paget's Disease

5. Treatment
First Line of Treatment -Medication
Two main types of medicines are approved to treat Paget's disease.
• Bisphosphonates. (reduce abnormal bone turnover)
- help relieve pain and keep the disease from getting worse.
- oral tablets Risedronate and Tiludronate, or an infusion with either Pamidronate or Zoledronic
acid. Zoledronate can be effective up to two years.
• Calcitonin. This is a hormone made by the thyroid gland. It may be used for certain patients but it
does not work as well as bisphosphonates and is not used as often.

Inhibition of bone resorption with bisphosphonates (due to abnormal osteoclast activity) is the gold
standard and first treatment initiated to decrease osteoclastic activity, improve bone density, and in
crease the strength of the bone itself.
The goal of this treatment is to cause a full remission (normal SAP levels) and prevent complications of
this condition.
Patients should intake 1000-1500 mg of calcium and at least 400 U of vitamin D daily. This
recommendation is especially important while utilizing bisphosphonate treatments.

Second Line of Treatment – NSAIDS & other modalities

Physiotherapy Management
Paget’s patients present with pain leading to loss of muscle strength, decreased range of motion, and
exercise tolerance.

• Physiotherapy Aims:
• education & realistic goal setting
• NSAIDS and other anti-inflammatories for pain relief
• heat / Ice, TENS, Acupuncture.
• maintain muscle strength, flexibility and joint range of motion to minimize skeletal complications
• increase endurance, and reduce the chances of deconditioning, reduce falls risk
• refer to orthotics or appliances to help in management of extremity deformities.
• walking aids to reduce weight-bearing pain, orthotics, adaptations & OT
• pain relief:
• massage for muscle pain, tenderness, and tightness
• hydrotherapy

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Band 5 IST Paget’s Disease of Bone Rónán Donohoe, 16 June ‘10

Third Line of Treatment - Surgery

Surgical intervention may be indicated if a patient is resistant to pharmacological or orthopedic
interventions. A Joint replacement is indicated if severe degenerative joint breakdown is present. If a
nerve compression syndrome is present and the patient is nonresponsive to conservative treatment,
surgery is required. Other common surgeries for Paget's disease include occipital craniectomy to relieve
basilar and nerve compression, and tibial osteotomy if the varus deformity is severe.

References / Links
Barker DJ, Chamberlain AT, Guyer MJ. Paget's disease of bone: the Lancashire focus. Br Med J
1980;280:1105–7

Rongstad KM, Wheeler DL, Enneking WF. A comparison of the amount of vascularity in Pagetic and
normal human bone. Clin Orthop 1994; 306: 247-9.1992; 89: 46 - 52.

Paget’s Association: http://www.paget.org.uk/

Standards of Care for people with Metabolic Bone Disease published by Arthritis and Musculockeletal
Alliance. http://www.arma.uk.net/pdfs/mbdweb.pdf

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