Genetic Disorders

Causes, symptoms, and diagnosis of Paget’s disease

Paget’s disease is a bone disorder which interferes with the body’s bone recycling process. Bone recycling is the process in which the new bone tissue gradually replaces the old tissue. Over time, Paget’s disease can cause bones to become misshapen and fragile. This bone disorder usually occurs in the skull, spine, pelvis, and legs.

The risk of suffering from Paget’s disease increases with age and it is hereditary. Complications of Paget’s disease include the hearing loss, pinched nerves in the spine, and broken bones.

Doctors and researchers are still unclear about the causes of Paget’s disease. However, as discussed above, the bone disorder can also be a combination of environmental and genetic factors and could also be related to the viral infection in the bone cells.

The risk factors that increase the probability of suffering from Paget’s disease include:

  • Age– People older than 40 are most likely to develop this type of bone disorder.
  • Gender– A recent survey concluded men are more likely to suffer from this disorder when compared with women.
  • Family history– People with an immediate close relative suffering from a similar bone disorder are more likely to develop the disorder.

In most cases, the disease progresses slowly and hence can be managed effectively. However, it can give rise to complications such as:

  • Osteoarthritis– It is the misshaping of the bone, thereby increasing the amount of stress on nearby joints.
  • Bone cancer– Although in rare cases, developing Paget’s disease increases the risk of suffering from bone cancer.
  • Fractures and deformities– Developing Paget’s disease makes the bones brittle. The bone disorder also results in the formation of extra blood vessels in the deformed bones, causing them to bleed more often during repair surgeries.
  • Heart failure– The bone disorder might force the heart to work harder and pump blood in the affected areas of the body. For people with pre-existing heart disease increases this workload could lead to heart failure.

Most people suffering from Paget’s disease show no symptoms in the beginning. When the condition becomes chronic, bone pain is the most common complaint. The disease causes the body to generate new bone tissue faster than normal. The rapid remodeling makes the bone brittle and soft over time. Here are some symptoms depending on the affected part of the body:

  • Skull– The overgrowth of the bone in the skull causes headaches and hearing loss in severe cases.
  • Spine– The nerves around get compressed causing pain, numbness and tingling sensations in the arms and legs.
  • Pelvis– Paget’s disease in the pelvis causes hip pain.
  • Legs– Soft and weak bones due to Paget’s disease cause the patient to become bowlegged. Enlarged and misshapen bones in the legs put extra stress in nearby joints causing osteoarthritis in the knee or hip.

The doctors will perform and examine areas of the body that are painful. Following imaging tests might be done to confirm the diagnosis:

  • Bone scan– This involves radioactive material being injected into the body as it travels through the system, revealing spots that are most affected due to Paget’s disease. The spots light up in the scanned image.
  • X-rays– As bone deformation is a primary symptom of Paget’s disease, X-rays help in diagnosing the area experiencing bone reabsorption, enlargement of bone, and characteristic deformities.