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Paget's Disease of Bone

Paget’s Disease of Bone

Causes, Symptoms and Treatments

Learn more about the symptoms, causes, diagnosis, and drugs used to treat Paget’s Disease of Bone.

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Paget’s disease of bone, also known as osteitis deformans, is a chronic bone disorder characterized by abnormal bone remodelling. It effectively disrupts normal bone formation which is involved with replacing old bone with new bone tissue. Here, we provide you with an in-depth overview of Paget’s disease of bone, including its causes, risk factors, symptoms, diagnosis, and treatment options.

What is paget’s disease of bone?

Paget’s disease of the bone affects the normal processes of bone remodelling, leading to the excessive breakdown and formation of bone tissue. It commonly affects the pelvis, spine, skull, and long bones.  Bone cells called Osteoclasts are involved in the absorption and cells called Osteoblasts are involved in the formation of new bone.  In Paget’s disease, Osteoclasts are more active than Osteoblasts, which results in net absorption of bone. Osteoblasts overreact and the bone that is formed is large and dense, but equally brittle and weak.  Very rarely, Paget’s disease can progress to lead to a type of bone cancer called Paget’s sarcoma.

What are the causes and risk factors associated with paget’s disease of bone?

The exact cause of Paget’s disease of bone is not fully understood. However, both genetic and environmental factors are believed to play a role in its development. Here are some factors that are associated with Paget’s disease of bone:

Genetic factors

There is evidence to suggest a genetic predisposition to Paget’s disease of bone. Mutations in the SQSTM1 gene have been identified in a significant number of individuals with the condition. However, having these genetic mutations does not guarantee the development of Paget’s disease.

Viral infection

Some studies have suggested that infection with a slow-acting virus, possibly a paramyxovirus, may contribute to the development of Paget’s disease. However, more research is needed to establish a clear link.

Age

Paget’s disease of bone is more commonly diagnosed in older individuals, typically over the age of 55. The risk of developing the condition increases with age.

Family history

Having a close family member, such as a parent or sibling, with Paget’s disease of bone increases the risk of developing the condition. This suggests a possible genetic component.

Environmental factors

Exposure to certain environmental factors, such as viral infections or other infectious agents, may contribute to the development of Paget’s disease. However, the specific triggers have not been definitively identified.

It’s important to note that having one or more of these risk factors does not necessarily mean an individual will develop Paget’s disease of bone. Many people with risk factors never develop the condition, while others without apparent risk factors may develop it. The exact interplay between genetic and environmental factors in Paget’s disease is still being studied.

What are the symptoms of paget’s disease of bone?

Paget’s disease of bone can manifest with a variety of symptoms, although some individuals may remain asymptomatic and the condition is discovered incidentally during medical evaluations or imaging tests. When symptoms do occur, they can vary depending on the location and extent of bone involvement. Here are some common symptoms associated with Paget’s disease of bone:

Bone pain or Joint Pain

Pain in the affected bones is a common symptom. The pain is typically described as a deep, aching, or throbbing sensation that may be constant or intermittent. It is often worse at night and may be exacerbated by weight-bearing activities or pressure on the affected bones.

Bone deformities

Paget’s disease can cause bone deformities, especially in weight-bearing bones. These deformities can lead to an altered shape, enlarged or misshapen bones, and an increased risk of fractures.

Enlarged bones

Affected bones may become enlarged and thicker than usual. This is particularly noticeable in the legs (femur and tibia), pelvis, spine, and skull.

Bone fractures

Weakened and enlarged bones in Paget’s disease can be more prone to fractures. Fractures can occur without significant trauma or as a result of minor injuries.

Joint stiffness

Paget’s disease can lead to joint stiffness, limiting range of motion and causing discomfort. This is more common in joints near affected bones.

Nerve compression symptoms

In rare cases, Paget’s disease can lead to nerve compression, particularly in the spine. This can result in symptoms such as tingling, numbness, weakness, or loss of bowel or bladder control.

Hearing loss

When Paget’s disease affects the skull, it can lead to hearing loss in some individuals.

How is paget’s disease of bone diagnosed?

Paget’s disease of bone is typically diagnosed through a combination of clinical evaluation, imaging tests, and laboratory tests. Here are the main diagnostic approaches:

Medical history and physical examination

The healthcare provider or rheumatology specialist will review your medical history, including any symptoms you may be experiencing, and conduct a physical examination to assess areas of bone involvement, deformities, and other signs.

Blood tests

Blood tests can be helpful in diagnosing Paget’s disease of bone. Elevated levels of alkaline phosphatase (ALP), a marker of bone activity, are often observed in individuals with the condition. Other blood tests may be conducted to rule out other causes of elevated ALP and assess overall bone health.

Imaging tests

Various imaging techniques can aid in diagnosing and evaluating Paget’s disease of bone. These may include:

  • X-rays: X-rays can reveal characteristic changes in the affected bones, such as bone enlargement, thickening, deformities, and areas of increased or abnormal bone density
  • Bone scans: Bone scans involve injecting a small amount of radioactive material into a vein, which is taken up by the bones. A special camera then detects and creates images of areas of increased bone activity, which can help identify affected regions
  • MRI (Magnetic Resonance Imaging): MRI scans can provide detailed images of bones, soft tissues, and nerve compression. They are particularly useful in assessing the involvement of the spine or other specific areas

Biopsy

In some cases, a bone biopsy may be performed to confirm the diagnosis. During a biopsy, a small sample of bone tissue is extracted for examination under a microscope.

It’s important to note that the diagnosis of Paget’s disease of bone is primarily based on clinical findings and imaging tests. Laboratory tests, such as blood tests, can help support the diagnosis and exclude other conditions.
If Paget’s disease of bone is diagnosed, further evaluation may be necessary to determine the extent of bone involvement and assess the impact on neighbouring structures, such as nerves or joints.

What are the treatment options for paget’s disease of bone?

The treatment options for Paget’s disease of bone aim to manage symptoms, reduce bone turnover, prevent complications, and improve overall bone health. The specific treatment approach depends on various factors, including the extent of the disease, symptoms, and individual patient characteristics. Here are some common treatment options:

Bisphosphonates

Bisphosphonates are the most commonly prescribed medications for Paget’s disease of bone. They work by inhibiting bone resorption, reducing bone turnover, and helping to normalize bone remodeling. Oral bisphosphonates, such as alendronate and risedronate, are often used as first-line treatment. In some cases, intravenous bisphosphonates, such as zoledronic acid, may be recommended.

Paget’s disease pain management

Over-the-counter or prescription pain medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs), may be used to manage pain associated with Paget’s disease. In some cases, stronger pain medications or localized injections of anesthetics or corticosteroids may be necessary.

Calcitonin

Calcitonin is a hormone that helps regulate calcium and bone metabolism. It can be used as a treatment option for Paget’s disease, particularly in cases where bisphosphonates are not well-tolerated or contraindicated. Calcitonin can be administered as a nasal spray or injection.

Surgery

Surgery may be considered for certain complications of Paget’s disease, such as fractures, severe deformities, or nerve compression. Surgical procedures can help stabilize bones, correct deformities, or relieve pressure on nerves.

Physical therapy

Physical therapy may be recommended to improve joint mobility, strength, and overall physical function. It can help manage symptoms, prevent muscle weakness, and improve overall quality of life.

Monitoring and follow-up

Regular monitoring of bone turnover markers, blood calcium levels, and imaging tests may be necessary to assess treatment response, disease progression, and potential complications.

 

What medications are used in paget’s disease of bone?

  • Alendronate (Fosamax)
  • Risedronate (Actonel)
  • Pamidronate (Aredia)
  • Zoledronic acid (Reclast)

Calcitonin (Miacalcin)

Calcitonin is a hormone that helps regulate bone remodeling.

Monoclonal Antibody

Denosumab (Prolia, Xgeva)

What are the management and lifestyle modifications goals for paget’s disease of bone?

In addition to medical treatments, management of Paget’s disease of bone may involve certain lifestyle modifications and self-care strategies to promote bone health and overall well-being. Here are some goals and recommendations for managing Paget’s disease:

Regular follow-up

Regular monitoring and follow-up with your healthcare provider are essential to assess treatment response, monitor disease progression, and make any necessary adjustments to your management plan.

Exercise

Regular physical activity, as recommended by your healthcare provider, can help improve bone strength, joint flexibility, and overall physical function. Weight-bearing exercises, such as walking or dancing, and resistance training can be beneficial. However, it’s important to consult with your healthcare provider or a physical therapist to determine the most appropriate exercises for your specific situation.

Fall prevention

Paget’s disease can increase the risk of fractures due to weakened bones. Taking steps to prevent falls is crucial. This includes ensuring a safe home environment, removing hazards, using assistive devices if needed, and maintaining good balance and strength through exercise.

Healthy diet

A balanced diet rich in essential nutrients, including enough calcium and vitamin D, is important for maintaining bone health. Calcium-rich foods, such as dairy products, leafy greens, and fortified foods, can help meet your calcium needs. Vitamin D helps with calcium absorption and can be obtained from sunlight exposure or through dietary sources like fatty fish and fortified products. Your healthcare provider may also recommend calcium and vitamin D supplements if necessary.

Smoking cessation

Smoking has detrimental effects on bone health and can worsen the complications of Paget’s disease. Quitting smoking is beneficial not only for bone health but also for overall cardiovascular and respiratory health.

Alcohol moderation

Excessive alcohol consumption can negatively affect bone health. It’s important to follow the recommended alcohol consumption guidelines provided by the health authorities in your country to minimize any potential harm.

Pain management

If you experience pain or discomfort related to Paget’s disease, work with your healthcare provider to develop a pain management plan. This may involve medications, physical therapy, heat or cold therapy, or other approaches to help alleviate symptoms.

It’s important to have open and ongoing communication with your healthcare provider regarding your management plan and any lifestyle modifications. They can provide personalized recommendations based on your specific needs and help optimize your bone health and overall quality of life with Paget’s disease of bone.

 

What paget’s disease of bone support organisations are there available to support me in the UK?

  • Paget’s Association: The Paget’s Association is a UK charity organization dedicated to supporting individuals with Paget’s Disease of Bone. They provide information resources, educational materials, a helpline, and support networks. They also fund research initiatives and advocate for improved understanding and management of the disease
  • The National Osteoporosis Society (NOS): The National Osteoporosis Society is a UK charity organization that supports individuals with various bone conditions, including Paget’s Disease of Bone. They provide information resources, educational materials, and support networks. They also offer helplines and online forums for individuals and families affected by the disease

What paget’s disease of bone support organisations are there available to support me in the US?

  • Paget Foundation: The Paget Foundation is a nonprofit organization dedicated to providing support and resources for individuals with Paget’s Disease of Bone. They offer information, educational materials, a helpline, and online resources. They also fund research initiatives and work to increase awareness and understanding of the disease

Summary

Paget’s disease of bone is a chronic condition that affects bone remodelling, leading to changes in bone structure and potential complications. Early diagnosis, appropriate treatment, and lifestyle modifications can help manage symptoms, reduce pain, and prevent complications. Regular monitoring and follow-up care are essential to maintain

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The information provided here about medications is subject to change and is not meant to include all uses, precautions, warnings, directions, drug interactions, allergic reactions, or negative effects. The absence of warnings or other information for a particular medication does not imply that the medication or medication combination is appropriate for all patients or for all possible purposes.

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