Bone health is a huge factor in overall well-being. However, there are some conditions that silently affect bone strength and structure. Paget’s disease of bone is one such disorder that can cause serious consequences if not timely diagnosed or treated. It mainly affects older adults and is characterised by bone pain and fractures.  

Medical professionals and students preparing for exams must understand the causes, symptoms, risk factors, and treatment options for Paget’s disease. This article provides a detailed overview of the condition to help you understand its clinical significance.

Paget’s Disease of Bone: An Overview

The chronic disease of bone remodelling, osteitis deformans or Paget’s disease of bone results in enlarged and deformed bones. In normal bone metabolism, old (osteoclast) bone is broken down and replaced by new (osteoblast) bone. But in Paget’s disease of bone, this process is disrupted, so bones become dense, weak, and more liable to fracture.

The disease most often affects older adults and commonly impacts the spine, pelvis, skull, and legs. Although serious cases can involve pain, fractures, and arthritis, most cases of this disorder are asymptomatic.

Causes of Paget’s Disease of Bone

The precise reason for Paget’s disease is unknown, but researchers believe a combination of genetic and environmental factors helps contribute to the development of the disease.

• Genetic Mutations: Studies suggest that there may be a genetic component and some mutations within the SQSTM1 gene, which may increase the risk of Paget’s disease of bone.
• Viral Infections: Some experts believe past infections, for example, measles, might incite abnormal bone remodelling in individuals, although this theory has not yet been proven.

Risk Factors of Paget’s Disease of Bone

Paget’s Disease of Bone is caused by the following risk factors:

• Age: After 50 years, the risk increases significantly.
• Sex: It is more likely to affect men than it does women.
• Family History: There is a tendency for Paget’s disease of bone to occur in people with a family history of the disease.
• Ethnicity: More common in people of European descent.
• Environmental Exposure: Certain environmental factors, such as poor diet and vitamin D deficiency, might contribute to disease development.

Symptoms of Paget’s Disease of Bone

Most cases are asymptomatic. However, if Paget’s disease of bone symptoms do appear, they can include:

• Bone Pain: Often the first and most common symptom.
• Bone Deformities: Bowed legs or skull thickening may occur due to enlarged or misshapen bones. Pressure on the brain, spinal cord or nerves from enlarged bones in the skull and spine can squeeze them, reducing blood circulation.
• Fractures: Weak bones increase the chance of fracture.
• Joint Pain and Arthritis: Damage to the cartilage in joints may lead to arthritis, while changes in bone structure can cause joint problems.  
• Hearing Loss: This can occur when changes in the bones of the skull and ears result in pressure on the nerves, which may lead to hearing impairment.
• Nerve Compression: Tingling or numbness can be caused by the enlarged bones pressing on nerves.

Here are some additional points to consider:

• The symptoms are determined by the bones involved. For instance, pelvic involvement may cause hip pain, and skull involvement may result in headaches or even hearing problems.
• For people with preexisting heart disease and bad cases of Paget’s disease, the extra pressure of circulating blood can overwork the heart and cause heart failure. 
• If the facial bones are affected by Paget’s disease, the teeth tend to loosen, and chewing becomes harder. 
• People with Paget’s disease may develop bone cancer in rare circumstances.

Diagnosis of Paget’s Disease of Bone

The diagnosis of Paget’s disease of bone uses a combination of the following methods:

• Paget’s Test (Blood Test): A high level of alkaline phosphatase in the blood can indicate increasing bone turnover, as this enzyme is often increased in Paget’s disease.
• X-rays: They can detect typical changes in bone structure, for example, enlargement, deformities, or bone breakdown.
• Bone Scan: Involves injecting radioactive material to highlight areas of the skeleton affected by the disease during imaging.
• CT or MRI Scans: Computed Tomography (CT) Scans or Magnetic Resonance Imaging (MRI) can be used in severe cases to help assess for nerve compression.

Treatment Options for Paget’s Disease

As of now, Paget’s disease is not curable. However, there are treatment options that can help manage the symptoms and prevent complications:

Medications

• Bisphosphonates: These are the most commonly used drugs to regulate bone remodelling. They include alendronate, risedronate, and zoledronic acid.
• Calcitonin: An alternative therapy for patients intolerant to bisphosphonates. It is a hormone to control bone turnover given as injections or nasal sprays.
• Pain Relievers: Bone pain can be managed with Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) and acetaminophen.

Lifestyle and Supportive Care

• Exercise: Activities which are low impact are able to strengthen muscles and increase mobility.
• Physical Therapy: It aids in maintaining joint function and posture.
• Assistive Devices: Braces or canes can help prevent falls and provide support.
• Balanced Diet: Vitamin D and calcium are important for bone health.
• Pain Management: Acetaminophen and NSAIDs can be taken over-the-counter (OTC) to alleviate discomfort.

Surgical Interventions

Surgery may be necessary for:

• Severe fractures
• Joint replacement in cases of arthritis
• Nerve compression relief

Complications of Paget’s Disease

Paget’s disease-related bone disorder usually progresses slowly. Generally, it is successfully controlled for the majority of individuals. However, there can be some potential complications like: 

• Deformities and Fractures: Affected bones are more prone to break, and the extra blood vessels in bizarre-shaped bones cause a higher risk of bleeding during repair operations. They can also cause leg bones to bend and affect walking.  
• Osteoarthritis: The abnormal bones can put pressure on joints nearby, possibly leading to osteoarthritis. 
• Neurological Issues: When Paget’s disease of bone affects the spine, skull, or any other place where the nerve passes through bone, the excess bone growth can press and damage the nerve. This can cause pain, tingling, weakness in limbs, and sometimes hearing loss.  
• Heart Failure: In more serious cases, the patient’s heart will be forced to pump blood to the damaged areas of the body more forcefully. Sometimes, this increased effort may result in heart failure.  
• Bone Cancer: Up to 1% of people with Paget’s disease of the bone will develop bone cancer.

FAQs About Paget’s Disease

1. Can Paget’s disease affect multiple bones?

Yes, Paget disease can occur in polyostotic (more than one bone involved) or monostotic (one bone) patterns. The most commonly affected bones are the spine, pelvis, skull, and long bones of the legs.

2. Can Paget’s disease lead to cancer?

In rare cases, Paget disease of bone can turn into osteosarcoma (bone cancer). It has been found to occur in less than 1% of cases, but it is a serious complication in need of immediate medical attention.

3. Can Paget’s disease be cured?

It’s not curable, but treatments, such as bisphosphonates and lifestyle changes, control the disease well.

4. What are the first signs of Paget’s disease?

The earliest sign is usually bone pain, later followed by bowed legs or skull thickening. It is usually found in individuals aged above 50 and detected through routine blood tests or X-rays.

5. Who is at the highest risk of developing Paget disease?

Paget’s disease of bone is more common in older people, those with a family history of the disease, and those of European descent.

6. What happens if Paget’s disease is left untreated?

Paget disease of bone can become very severe, resulting in severe bone deformities, fractures, arthritis, hearing loss, and nerve compression, affecting mobility and quality of life.

7. Is Paget’s disease the same as osteoporosis?

No, Paget’s disease of bone and osteoporosis are not the same. Paget’s disease causes abnormal bone remodelling that results in enlarged but weak bones. Meanwhile, osteoporosis causes reduced bone density or thinning of bones, making bones fragile and susceptible to fracture.

Conclusion

Prompt diagnosis and appropriate treatment of Paget’s disease can avoid serious complications and minimise the impact on a patient’s quality of life. Persistent bone pain or deformities should be checked by a doctor, which can aid in early diagnosis of this disorder. 

Understanding Paget’s disease of bone is crucial for medical aspirants not only for covering their syllabus but also for future diagnoses. DocTutorials offers comprehensive video lectures, one-to-one classes, question banks, mentorship, and more, facilitating comprehensive preparation for medical exams.  Power your NEET PG 2025 preparation and take your medical career to new heights!