From the Guidelines
Paget's disease, also known as Osteitis Deformans, is a chronic bone disorder characterized by an abnormal breakdown and regrowth of bone tissue, leading to enlarged, misshapen, and weakened bones.
Definition and Pathophysiology
Paget's disease is a condition where the normal bone remodeling process becomes disrupted, causing bones to become enlarged, misshapen, and weakened. It typically affects older adults and commonly involves the pelvis, skull, spine, and legs. The disease occurs when osteoclasts (cells that break down bone) become overactive, followed by increased osteoblast activity (cells that build bone), resulting in disorganized bone structure.
Clinical Features and Complications
Many patients with Paget's disease have no symptoms, but when present, symptoms can include bone pain, joint pain, headaches, hearing loss, and bone deformities. Complications may include fractures, arthritis, and rarely, bone cancer. According to a study published in the British Journal of Cancer 1, Paget's disease is a risk factor for osteosarcoma, a type of bone cancer.
Diagnosis and Treatment
Diagnosis of Paget's disease is typically made through a combination of clinical evaluation, laboratory tests, and imaging studies. Treatment often involves bisphosphonate medications like zoledronic acid (5mg IV once) or oral alendronate (40mg daily for 6 months), which slow bone turnover by inhibiting osteoclast activity. Pain medications and physical therapy may help manage symptoms. Regular monitoring with bone scans and alkaline phosphatase blood tests is important to track disease progression and treatment response. Early treatment is crucial to prevent complications, especially in patients with active disease affecting weight-bearing bones or the skull.
Key Points
- Paget's disease is a chronic bone disorder characterized by abnormal bone breakdown and regrowth.
- It typically affects older adults and commonly involves the pelvis, skull, spine, and legs.
- Symptoms may include bone pain, joint pain, headaches, hearing loss, and bone deformities.
- Complications may include fractures, arthritis, and rarely, bone cancer.
- Treatment involves bisphosphonate medications, pain management, and physical therapy.
- Regular monitoring is important to track disease progression and treatment response.
From the Research
Definition and Characteristics of Paget's Disease
- Paget's disease of bone, also known as osteitis deformans, is a benign focal disorder of accelerated skeletal remodeling 2.
- It is characterized by increased but disorganized bone remodeling, affecting one or more skeletal sites 3, 4.
- The disease can be monostotic (affecting a single bone) or polyostotic (affecting multiple bones) 2.
Pathophysiology and Etiology
- Paget's disease is a localized disorder of bone remodeling, initiated by increased numbers of larger than normal osteoclasts at affected skeletal sites 5.
- The increase in bone resorption is followed by an increase in new bone formation, altering bone architecture 5.
- Genetic factors play an important role in the pathogenesis of Paget's disease, with variants within or close to genes that regulate osteoclast function contributing to susceptibility 4.
- Environmental factors also play a key role, but the nature of the environmental triggers is less clear 4.
Clinical Features and Complications
- Paget's disease can present with bone pain, deformity, nerve compression syndromes, and fragility fractures 3, 4.
- Some patients are asymptomatic, while others develop complications such as fracture and deformity 3.
- The disease frequently involves the pelvis, skull, spine, and long bones 6.
Diagnosis and Treatment
- Plain radiographs of the suspicious regions of the skeleton are recommended for patients with suspected Paget's disease 2.
- Biochemical evaluation should be done using serum total ALP or more specific markers of bone formation, such as PINP or CTX 2.
- Treatment with a bisphosphonate is recommended for most patients with active Paget's disease who are at risk for further skeletal and extraskeletal complications 2, 5.
- A single dose of 5 mg i.v. zoledronate is suggested as the treatment of choice in patients without contraindications 2.