Signs and Symptoms
- Paget's disease is often asymptomatic in mild or early cases
- The most common symptom is bone pain
- Symptoms may be confused with arthritis or other disorders
- Increasing deformity of bones may be noticed
- Skull involvement may cause frontal bossing, increased hat size, and headaches
Associated Conditions
- Paget's disease can lead to osteoarthritis due to changes in bone shape
- Severe Paget's disease may result in heart failure
- Kidney stones are more common in patients with Paget's disease
- Nervous system problems can occur due to increased pressure on the brain or spinal cord
- Facial bone involvement may cause loose teeth and chewing difficulties
Causes
- Paget's disease may be caused by a slow virus infection
- Viral infections associated with Paget's disease include respiratory syncytial virus, canine distemper virus, and measles virus
- Genetic factors play a role in the development of Paget's disease
- Mutations in genes SQSTM1 and RANK are associated with Paget's disease
- About 40-50% of people with inherited Paget's disease have a mutation in the SQSTM1 gene
Pathogenesis and Treatment
- Paget's disease progresses through four stages: osteoclastic activity, mixed osteoclastic-osteoblastic activity, osteoblastic activity, and malignant degeneration
- Initially, there is increased bone resorption caused by osteoclasts
- This is followed by compensatory bone formation by osteoblasts
- The bone formation is disorganized, resulting in a mosaic pattern
- The bone becomes hypervascular and may eventually become dense or 'burned-out'
- There is no cure for Paget's disease, but medications can help control symptoms
- Bisphosphonates and calcitonin are commonly used medications for Paget's disease
- Treatment is more successful when started early before complications arise
Diagnosis, Medication, Surgery, and Specialists
- Elevated alkaline phosphatase in the blood is the first clinical manifestation
- Pagetic bone has a characteristic appearance on X-rays
- Urine markers of bone turnover, such as pyridinoline, can be used
- Elevated levels of serum and urinary hydroxyproline are found
- Bone scans can determine the extent and activity of the condition
- Medications are recommended for those with bone pain, elevated alkaline phosphatase levels, or risk of bone fracture
- Bisphosphonates like risedronic acid, alendronic acid, and pamidronic acid are commonly prescribed
- Neridronate and etidronate disodium are also used, with specific dosing regimens
- Zoledronic acid is given as an intravenous infusion and is effective for two years
- Surgery may be recommended for fractures, severe degenerative arthritis, and bone deformity
- Fractures may heal in a better position with surgery
- Joint replacement of hips and knees may be considered for severe arthritis
- Osteotomy, cutting and realignment of pagetic bone, can help with painful weight-bearing joints
- Endocrinologists, rheumatologists, orthopedic surgeons, neurosurgeons, neurologists, oral and maxillofacial surgeons, and otolaryngologists are knowledgeable about treating Paget's disease
- Various specialists may be involved in the ongoing management and treatment of the disease.
Paget's disease of bone (commonly known as Paget's disease or, historically, osteitis deformans) is a condition involving cellular remodeling and deformity of one or more bones. The affected bones show signs of dysregulated bone remodeling at the microscopic level, specifically excessive bone breakdown and subsequent disorganized new bone formation. These structural changes cause the bone to weaken, which may result in deformity, pain, fracture or arthritis of associated joints.
| Paget's disease of bone | |
|---|---|
| Other names | osteitis deformans, Paget's disease |
 | |
| "This 92 year-old male patient presented for assessment of sudden inability to move half his body. An incidental finding was marked thickening of the calvarium. The diploic space is widened and there are ill-defined sclerotic and lucent areas throughout. The cortex is thickened and irregular. The findings probably correspond to the 'cotton wool spots' seen on plain films in the later stages of Paget’s disease." | |
| Pronunciation |
|
| Specialty | Rheumatology  |
| Named after | James Paget |
The exact cause is unknown, although leading theories indicate both genetic and acquired factors (see Causes). Paget's disease may affect any one or several bones of the body (most commonly pelvis, tibia, femur, lumbar vertebrae, and skull), but never the entire skeleton, and does not spread from bone to bone. Rarely, a bone affected by Paget's disease can transform into a malignant bone cancer.
As the disease often affects people differently, treatments of Paget's disease can vary. Although there is no cure for Paget's disease, medications (bisphosphonates and calcitonin) can help control the disorder and lessen pain and other symptoms. Medications are often successful in controlling the disorder, especially when started before complications begin.
Paget's disease affects from 1.5 to 8.0 percent of the population, and is most common in those of British descent. It is primarily diagnosed in older people and is rare in people less than 55 years of age. Men are more commonly affected than women (3:2). The disease is named after English surgeon Sir James Paget, who described it in 1877.
