From the Research
Osteitis deformans, also known as Paget's disease of bone, typically presents with bone pain, skeletal deformities, and complications related to abnormal bone remodeling, with many patients being asymptomatic, as noted in a recent study 1. The presentation of osteitis deformans can vary widely among patients. Key features include:
- Bone pain, which can be deep and aching, worsening with weight-bearing and at night
- Skeletal deformities, such as skull enlargement, bowing of long bones (especially the tibia), kyphosis of the spine, and decreased height
- Complications related to abnormal bone remodeling, including hearing loss due to skull involvement affecting the auditory ossicles and pathologic fractures in affected bones
- Many patients are asymptomatic, with the condition discovered incidentally on imaging studies or through elevated alkaline phosphatase levels on routine blood tests, as discussed in 1 and supported by older studies like 2 and 3. The disease results from dysregulated bone remodeling with excessive osteoclast activity followed by disorganized bone formation, creating a mosaic pattern of bone architecture. Diagnosis typically involves:
- Serum alkaline phosphatase measurement
- Bone-specific markers
- Radiographic imaging showing characteristic mixed lytic and sclerotic lesions
- Bone scans, which are particularly useful for determining the extent of skeletal involvement, as mentioned in 4. Complications can include high-output heart failure, hypercalcemia, and rarely, osteosarcoma transformation. Given the variability in presentation and the potential for asymptomatic cases, a high index of suspicion is necessary for diagnosis, especially in patients over 55 years of age, as indicated by studies such as 5 and 1.