What is Paget's disease or osteitis deformans?

Paget's disease of bone, also known simply as Paget's disease or osteitis deformans, is a chronic bone disorder characterized by abnormal bone remodeling. In this condition, the normal process of bone resorption (the breaking down of old bone) and bone formation (the building of new bone) is disrupted. As a result, the affected bones become enlarged, structurally weak, and prone to deformities.

Key features of Paget's disease of bone include:

Bone Remodeling Imbalance:

The normal cycle of bone remodeling involves the removal of old bone by osteoclasts (cells that break down bone) and the formation of new bone by osteoblasts (cells that build bone). In Paget's disease, there is an overactive phase of bone resorption followed by excessive, but structurally abnormal, bone formation.

Common Sites of Involvement:

While Paget's disease can affect any bone, it most commonly involves the spine, pelvis, skull, and long bones, such as the femur and tibia.

Symptoms:

Many individuals with Paget's disease may not experience symptoms and may be unaware of the condition. When symptoms do occur, they can include bone pain, joint pain, warmth over affected bones, deformities, and fractures.

Diagnosis:

Diagnosis is often made based on a combination of clinical evaluation, imaging studies (X-rays, bone scans), and blood tests. Elevated levels of alkaline phosphatase, a marker of increased bone turnover, are often observed in blood tests.

Complications:

Paget's disease can lead to complications such as fractures, arthritis, hearing loss (if the skull is affected), and compression of nerves or the spinal cord.

Treatment:

Treatment is not always necessary, especially if the condition is asymptomatic. When treatment is needed, medications such as bisphosphonates are commonly prescribed to help regulate bone turnover and reduce the risk of complications. Pain management and physical therapy may also be part of the treatment plan.

Monitoring:

Regular monitoring through imaging studies and blood tests is often recommended to assess disease activity and response to treatment.
Paget's disease is more common in older individuals, and its exact cause is not fully understood. There may be a genetic component, as the condition tends to run in families. While Paget's disease of bone is not a form of cancer, it can increase the risk of certain types of bone cancer in affected bones.