Understanding Paget’s Disease: Causes, Symptoms, and Treatment

Paget’s disease is a condition that causes abnormal cell activity, leading to changes in how certain body tissues grow and function. Depending on the type, it can affect different parts of the body, such as the bones, breast, or skin, each with its own set of challenges and symptoms. In most cases, the condition develops gradually and may go unnoticed for years until noticeable changes or discomfort appear. Because the disease can vary widely in how it presents and progresses, understanding its causes, symptoms, and available treatments is essential for early recognition and better management. This blog explores these in detail, starting with what Paget’s disease actually is and how it develops.

What is Paget’s Disease?

Paget’s disease refers to a group of conditions that disrupt normal cell growth and turnover in the body, leading to abnormal tissue changes. It is named after Sir James Paget, the British surgeon who first described these disorders. The disease can occur in different forms depending on the tissue affected, the most common being Paget’s disease of bone, which alters bone structure and strength, and Paget’s disease of the breast, which affects the skin of the nipple and is linked to underlying breast cancer. Less commonly, it can also involve other areas such as the skin or vulva. In each type, cells behave in an unusual way, replacing healthy tissue with abnormal growth. 

What are the Types of Paget’s Disease?

Paget’s disease can affect different parts of the body, and each type has its own symptoms and treatment approach. The main forms include:

1. Paget’s Disease of the Bone

This is the most common form. It affects how bones are formed and repaired, leading to enlarged, weakened, or deformed bones. The pelvis, spine, skull, and legs are most often affected. Symptoms may include bone pain, stiffness, joint discomfort, and an increased risk of fractures. Older adults are most commonly affected, and genetic and environmental factors may play a role in its development.

2. Paget’s Disease of the Breast

Also called mammary Paget’s disease, this rare condition affects the nipple and areola. Early signs include redness, itching, flaking, or discomfort around the nipple. It is often linked to underlying breast cancer, making early detection and treatment critical. Treatment usually involves surgery and may include additional therapies depending on the cancer stage.

3. Extramammary Paget’s Disease

This form develops in areas with sweat glands, such as the genitals, groin, or armpits. It appears as a red, scaly, or itchy patch that may resemble eczema. Extramammary Paget’s disease can occur on its own or be linked to cancers in nearby organs. Surgical removal is the most common treatment, and regular monitoring is important to check for recurrence.

4. Other Rare Forms

Rarely, Paget’s disease can appear in areas such as the vulva or male genital region. These types are treated similarly to extramammary Paget’s disease and require careful evaluation for possible associated cancers.

What are the Possible Causes and Risk Factors of Paget’s Disease?

The exact cause of Paget’s disease is not fully known, but several factors can increase the likelihood of developing it. These factors vary depending on the type of Paget’s disease. The main causes and risk factors include:

• Genetic Factors: People with a close family member who has Paget’s disease, particularly the bone type, have a higher chance of developing it. Certain inherited gene changes may affect how cells grow and repair tissues, making bones or other tissues more vulnerable to abnormal changes.
• Age: The disease mainly affects older adults, typically those over 50. The risk grows with age, and older individuals may experience more pronounced complications, such as bone deformities, fractures, or joint issues.
• Gender: Men have a slightly higher risk of developing Paget’s disease of the bone compared to women. This difference may be related to genetic and hormonal factors, though the exact reason is unclear.
• Ethnicity: People of European descent are more commonly affected. The condition is rare in Asian and African populations, suggesting that genetic and regional factors may influence susceptibility.
• Viral and Environmental Factors: Some studies suggest that slow-acting viral infections could contribute to abnormal bone changes, although this has not been proven definitively. Environmental influences, including exposure to certain toxins, might also play a role in some cases.
• Associated Health Conditions: Paget’s disease of the breast and extramammary types are often linked to underlying cancers. These connections mean that early evaluation is important, as the presence of Paget’s disease may indicate another health issue that needs attention.

What are the Symptoms of Paget’s Disease?

Symptoms of Paget’s disease vary depending on the type and the part of the body affected. Some people may not notice any signs for years, while others may experience noticeable changes or discomfort. Key symptoms include:

• Bone Pain: Persistent or deep aching in affected bones is the most common symptom, particularly in the pelvis, spine, skull, and legs. The pain may intensify at night or after physical activity and often feels different from normal aches. Some people describe it as a dull, constant ache that affects daily activities.
• Bone Deformities: Bones affected by Paget’s disease may grow larger, thicker, or misshapen. Common changes include bowed legs, an enlarged skull, or uneven height. These deformities develop gradually and can affect posture, balance, and overall mobility.
• Joint Pain and Stiffness: When the disease affects bones near joints, it can increase stress on those joints. This often leads to stiffness, swelling, or discomfort, particularly in the hips, knees, or spine. Over time, this may contribute to arthritis, limiting movement and flexibility.
• Fractures: Weakened or deformed bones are more prone to breaks, even from minor injuries or falls. Fractures may take longer to heal and can sometimes require surgical intervention to restore proper alignment or function.
• Nerve Compression Symptoms: Enlarged or misshapen bones can press on nearby nerves, causing tingling, numbness, or weakness in the arms or legs. Severe compression may affect mobility, coordination, or balance, and in some cases, it can lead to chronic pain.
• Hearing Loss: Involvement of the skull can affect the bones around the ears, gradually reducing hearing in one or both ears. This type of hearing loss often develops slowly and may be accompanied by ringing in the ears or a feeling of fullness.
• Skin and Nipple Changes: In Paget’s disease of the breast or extramammary types, the affected skin may appear red, scaly, itchy, or irritated. In breast-related cases, changes typically occur around the nipple and areola. These symptoms can resemble eczema or dermatitis, which sometimes delays diagnosis.
• Lumps or Masses: Some forms of Paget’s disease, especially those linked to underlying cancers, may produce a palpable lump beneath the skin. In breast-related Paget’s disease, this lump may indicate ductal carcinoma in situ (DCIS) or invasive breast cancer, highlighting the importance of prompt medical evaluation.
• Other Signs: Depending on the location, Paget’s disease can also lead to fatigue, limited range of motion, or difficulty performing daily activities due to discomfort or bone changes.

How is Paget’s Disease Diagnosed?

Diagnosing Paget’s disease involves a combination of medical history, physical examination, and specialised tests. Because symptoms can be subtle or resemble other conditions, doctors often use multiple approaches to confirm the diagnosis. The main methods for diagnosis include:

Medical History and Physical Examination

Doctors begin by reviewing the patient’s medical history, including any family history of Paget’s disease or related conditions. They will ask about symptoms such as bone pain, deformities, or changes in hearing or skin. 

During a physical examination, the doctor may check for enlarged bones, bowed legs, or other visible deformities and assess joint movement and nerve function.

Blood Tests

Blood tests help detect abnormal bone activity. The most common marker is alkaline phosphatase, an enzyme that rises when bone turnover is high. Elevated levels may indicate Paget’s disease, especially when combined with other symptoms or imaging findings. Additional blood tests may be done to rule out other conditions that cause similar bone changes.

X-rays

X-rays are often the first imaging test used to detect changes in bone structure. They can reveal areas of bone enlargement, deformity, or abnormal density. X-rays also help assess fractures, bone thinning, and joint involvement.

Bone Scans

A bone scan involves injecting a small amount of radioactive material that highlights areas of increased bone activity. This test can identify affected bones that may not yet cause symptoms, as well as the extent and severity of the disease throughout the body.

Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) Scans

MRI and CT scans provide detailed images of bones and surrounding tissues. These tests are especially useful if the disease affects the spine, skull, or joints, or if nerve compression is suspected. They help doctors plan treatment by showing precise locations and the severity of bone changes.

Biopsy (in Rare Cases)

A biopsy, which involves taking a small tissue sample, may be performed if the diagnosis is unclear or to rule out cancer in cases of breast or extramammary Paget’s disease. Histological examination confirms the type of cells involved and guides appropriate treatment.

What Treatment Options are Available?

Treatment for Paget’s disease depends on the type, severity, and location of the condition, as well as the presence of symptoms or complications. Doctors usually recommend a combination of medication, lifestyle support, and, in some cases, surgery. The main treatment approaches include:

Medications

Medications are often the first line of treatment, particularly for Paget’s disease of the bone.

• Bisphosphonates: These drugs slow down excessive bone turnover, helping to reduce pain, improve bone strength, and lower the risk of fractures. They may be prescribed orally or administered intravenously in severe cases.
• Pain Relievers: Over-the-counter painkillers such as nonsteroidal anti-inflammatory drugs (NSAIDs) can help manage mild to moderate discomfort caused by bone changes or arthritis.
• Additional Medications: In some cases, doctors may prescribe medicines to manage complications such as nerve pain or inflammation in nearby joints.

Surgery

Surgical intervention is considered when complications arise or when medications do not provide sufficient relief.

• Fracture Repair: Paget-affected bones are more prone to fractures, which may require surgical stabilization using rods, plates, or screws.
• Joint Replacement: Severe joint damage, often from arthritis caused by bone deformities, may require hip or knee replacement surgery.
• Removal of Affected Tissue: In breast or extramammary Paget’s disease, surgery is often needed to remove abnormal tissue and prevent cancer progression.

Physical Therapy and Lifestyle Support

Physical therapy is an important part of treatment for maintaining mobility and strength. Tailored exercises can:

• Improve muscle strength around affected bones
• Reduce stress on joints and bones
• Enhance balance and posture
• Support daily activities and prevent falls

Hearing Aids and Assistive Devices

When Paget’s disease affects the skull, hearing loss can occur. Hearing aids may help improve auditory function. Other assistive devices such as braces, canes, or walkers can support mobility and reduce strain on weakened or deformed bones.

How Can Paget’s Disease be Managed?

Managing Paget’s disease involves a combination of medical care and daily practices. The following tips can help reduce symptoms, protect bones, and improve overall quality of life.

1. Take Medications Exactly as Prescribed

Follow your doctor’s instructions carefully for medications such as bisphosphonates. These help slow abnormal bone growth, reduce pain, and prevent fractures. Use pain relievers responsibly to manage discomfort. Attending regular follow-ups ensures medications remain effective, allows monitoring of bone health, and helps adjust dosages if needed.

2. Eat a Diet That Supports Bone Health

Nutrition plays a key role in managing Paget’s disease:

• Calcium: Consume dairy products, leafy greens, or fortified foods to maintain bone density.
• Vitamin D: Sun exposure, fortified foods, and supplements help the body absorb calcium efficiently.
• Protein: Adequate protein intake supports muscle strength, which helps protect weakened bones and improves mobility.

Maintaining a balanced diet also supports overall health, reducing fatigue and helping the body repair tissue.

3. Exercise Regularly to Strengthen Bones and Muscles

Physical activity improves bone strength, joint function, and balance:

• Engage in low-impact exercises such as walking, swimming, or cycling to reduce stress on bones.
• Include strength training to support bones and joints.
• Perform stretching and flexibility exercises to maintain range of motion and prevent stiffness.

Regular exercise also improves posture and reduces the risk of falls, which is especially important for weakened bones.

4. Maintain Proper Posture to Reduce Bone Stress

Correct posture decreases strain on affected bones and joints:

• Sit and stand using supportive chairs or cushions.
• Avoid prolonged slouching or awkward positions that place extra pressure on the spine, hips, or legs.
• Adjust workspaces ergonomically to reduce repetitive stress on joints.

Good posture can also help prevent secondary problems such as back pain or joint discomfort.

5. Take Steps to Prevent Falls and Injuries

Weakened bones increase the risk of fractures, so fall prevention is critical:

• Wear supportive, non-slip footwear.
• Keep living areas free of obstacles and use non-slip mats in wet areas.
• Install handrails on stairs and grab bars in bathrooms.
• Use walking aids or braces if recommended by a healthcare provider.
• Avoid uneven or slippery surfaces when possible.

These precautions help protect bones and reduce the likelihood of serious injury.

6. Address Related Conditions Alongside Paget’s Disease

Many people with Paget’s disease may experience complications such as arthritis, nerve compression, or hearing loss:

• Use hearing aids for hearing problems caused by skull involvement.
• Employ braces, walking aids, or orthotic supports for mobility issues.
• Participate in physiotherapy or targeted exercises to relieve joint stiffness and maintain flexibility.

Managing these conditions alongside Paget’s disease improves comfort, functionality, and overall quality of life.

Consult Today

Noticing bone pain, stiffness, or unusual changes in your joints can be unsettling, and it’s natural to feel unsure about what’s going on. If any of the symptoms we’ve discussed sound familiar, the next step is simple: consult an Rheumatology specialist at Max Hospital. They can evaluate what’s happening, recommend the right tests, and guide you through treatments and practical tips that fit your situation.

Frequently Asked Questions

Is Paget's disease contagious or hereditary? 

Paget's disease is not contagious and cannot be spread from person to person. However, it can run in families. If you have a close relative with Paget's disease of the bone, your risk is higher, though most people with the condition do not have affected family members.

Can Paget's disease be cured completely? 

While there is no cure for Paget's disease, it can be effectively managed with treatment. Medications like bisphosphonates can control bone turnover and prevent complications. Many people with the condition lead normal, active lives with proper management.

How often should I have follow-up appointments? 

Follow-up frequency depends on your disease severity and symptoms. Typically, patients see their doctor every 6-12 months for blood tests and monitoring. If you're on active treatment or experiencing complications, more frequent visits may be necessary.

Can Paget's disease spread to other bones over time? 

Paget's disease typically affects specific bones from the onset and rarely spreads to new areas. However, the condition in already-affected bones may progress if left untreated, which is why regular monitoring is important.

Will I need treatment if I have no symptoms? 

Not always. If the disease is mild and not causing pain or complications, your doctor may recommend "watchful waiting" with regular monitoring. Treatment is usually started if symptoms develop or if there's risk of complications like fractures or nerve compression.

Can I still exercise if I have Paget's disease? 

Yes, exercise is encouraged and beneficial. Low-impact activities are usually recommended to strengthen muscles and bones without placing excessive stress on affected areas. Always consult your doctor or physiotherapist about which exercises are safe for your specific condition.

Does Paget's disease affect life expectancy? 

Most people with Paget's disease have a normal life expectancy. Serious complications are rare but can include heart problems if extensive areas of bone are affected, or very rarely, bone cancer. Regular medical care helps prevent and manage these risks.

Are there any complications during pregnancy for women with Paget's disease? 

Paget's disease is uncommon in women of childbearing age since it typically affects older adults. If you have the condition and are planning pregnancy, discuss it with your doctor, as some medications used to treat Paget's disease may need to be adjusted.

Can stress or injury trigger Paget's disease? 

There is no evidence that stress or injury causes Paget's disease. However, an injury to an affected bone may reveal previously undiagnosed disease when X-rays are taken, or it may worsen symptoms in bones already affected by the condition.

Should I avoid certain activities or foods? 

There are no strict activity restrictions, but high-impact activities or those with fall risk should be approached carefully. Regarding diet, there are no specific foods to avoid, though limiting excessive alcohol and avoiding smoking can help maintain overall bone health.