Paget's Disease of Bone: What are the Causes, Symptoms & How It's Treated
If you have Paget’s disease, or you think you might have, it can be frightening. The name of the disease itself can be petrifying. This disease is not known to most people because it is relatively rare. Scientists are still researching and finding treatments to cure this disease.
Currently, there’s no known cure. However, the disease can be managed and treated. In this article, we’ll understand the basics of Paget’s disease and how it can be treated and managed. We aim to provide you with everything you need to know about this bone disease.
What Is Paget's Disease of Bone?
Paget’s disease of bone is a chronic condition that affects the way your bones grow and reform. It causes some areas of your bones to break down faster than normal while other areas grow larger and become weaker over time. This can lead to pain, deformity, fractures, and other complications. There is no cure for Paget’s disease, but there are treatments that can help to relieve the symptoms and slow down the progression of the disease.
- Paget's disease of bone interferes with the normal recycling process in which new bone tissue gradually replaces old bone tissue — the disease causes bones to become fragile and misshapen over time
- Also known historically as osteitis deformans — named after Sir James Paget, who first described it in 1877
- The pelvis, skull, spine, and leg bones are most commonly affected — it can affect one bone (monostotic) or multiple bones (polyostotic)
- It occurs in approximately 2–3% of the population over age 55, more common in people of Northern European ancestry
- Many patients have no symptoms and are unaware they have the disease until X-rays are taken for another reason
- Key distinction from osteoporosis: Paget's disease causes bones to be larger but structurally weaker — osteoporosis causes bones to be smaller and less dense. Both can cause fractures, but through different mechanisms
What Happens in Paget's Disease?
Your bones are constantly changing throughout your life. Cells called osteoclasts break down old bone tissue, and cells called osteoblasts create new bone tissue to replace it.[1]
At the onset of the disease, more bones break down. As it progresses, old bones are removed and replaced by new ones. However, the new bones form incorrectly, resulting in abnormal size and shape, and tend to be weak and soft. These bones are prone to breaking or deforming.[2]
Who Gets Paget's Disease?
Paget’s disease is more common in older people, especially those over 50 years old. It affects both men and women, but men are slightly more likely to have it. It is also more common in certain ethnic groups like people of British, Anglo-Saxon, or Central European descent.[3]
The exact number of people with Paget’s disease is not known, but it is estimated that about 1% or less of adults in the United States have it.
Which Bones Are Affected By Paget ’s Disease of the Bone?
Paget’s disease can affect any bone in your body, but some bones are more likely to be affected than others. The most commonly affected bones are the pelvis, spine, skull, femur (thigh), tibia (shin), and humerus (upper arm). Sometimes, only one bone is affected, but more often, several bones are involved. The disease can also spread to different bones over time.[3]
Symptoms and Signs of Paget's Disease
At first, people with Paget’s disease do not develop any symptoms or signs. Blood tests or an X-ray might show that a person has the disease. However, as the disease progresses, a variety of symptoms may manifest.
According to the National Institute of Arthritis and Musculoskeletal and Skin Diseases, common symptoms of Paget’s disease include pain in the affected bone, limbs taking on a bent, bow shape, and curvature of the spine. When the disease affects the spine, it can cause tingling and numbness; if it affects the skull, it can cause headaches. However, other simple bone pain causes, like joint problems don’t necessarily indicate that you have Paget’s disease.[4]
Depending on which bones are affected, other symptoms may appear like arthritis around the affected bones, hearing loss, heart failure (in people who already have heart disease), pressure and reduced blood flow in the brain, and loose teeth. In rare cases, Paget’s disease may also cause bone cancer.
General symptoms
- Constant, dull bone pain
- Joint pain, stiffness, and swelling
- Shooting pain that travels along or across the body
- Numbness and tingling
- Loss of movement in part of the body
Symptoms by location
- Pelvis: Hip pain is the most common symptom when the pelvis is affected — it can be mistaken for arthritis
- Skull: Overgrowth of bone in the skull can cause headaches, hearing loss (one or both ears), increased hat size, and, in rare cases vision changes if nerves are compressed
- Spine: Nerve roots can become compressed, causing pain, tingling, and numbness in arms or legs — spinal stenosis is a known complication
- Legs: As the bones weaken, they may bend — causing bowleggedness — enlarged and misshapen leg bones put extra stress on nearby joints accelerating osteoarthritis
- Arms/Collarbone: Less commonly affected, but can cause pain and deformity
Paget's Disease of Bone vs Osteoporosis: What's the Difference?
| Feature | Paget's Disease of Bone | Osteoporosis |
|---|---|---|
| Bone size | Enlarged, expanded | Normal size, reduced density |
| Bone quality | Weaker, disorganized structure | Porous, brittle |
| Cause | Abnormal remodeling (too fast) | Loss of bone density (too slow formation) |
| Who it affects | Mainly over 55, Northern European | Mainly postmenopausal women and older adults |
| Symptoms | Often none; bone pain, deformity | Often none until fracture occurs |
| Diagnosis | ALP blood test + X-ray | DEXA bone density scan |
| Treatment | Bisphosphonates, surgery if needed | Bisphosphonates, calcium, vitamin D |
| Cancer risk | Up to 1% osteosarcoma risk | No increased cancer risk |
| Genetic link | Strong — SQSTM1 gene mutations | Partial — multiple genes involved |
What Causes Paget’s Disease of the Bone?
The exact cause of Paget’s disease is not known. However, it tends to be genetic and runs in families. About 15% to 40% of people with Paget’s disease have close relatives who also have it. Researchers have identified several genes that may increase the risk of developing Paget’s disease.[2]
Genetic Factors Researchers have identified several genes linked to Paget's disease — if you have a close relative with the condition, you are significantly more likely to develop it. Mutations in the SQSTM1/p62 gene are among the most studied genetic risk factors. The disease tends to run in families and is more common in people of Northern European descent.
Viral Theory Paget's disease may be caused by a gene that is activated later in life by exposure to a slow-acting virus — the paramyxovirus family (measles, respiratory syncytial virus) has been implicated in research, though this remains under investigation and has not been conclusively proven.
Age and Demographics The disease is more common in older people — it is uncommon in people under 50. Caucasian men over 55 are most commonly affected. The prevalence varies significantly by geography — higher in the UK, Australia, New Zealand, and Western Europe; lower in Asia and Scandinavia.
Environmental Factors Environmental exposure may play a role — studies have noted geographic clustering and a declining incidence in countries where certain viral infections have become less common through vaccination.
What are the Possible Complications of Paget’s Disease?
1. Bone expansion
When the affected bones grow larger, they can interfere with the normal function of nearby organs or tissues. For example, if the skull is affected, it can cause headaches, facial pain, sinus problems, or dental issues. The expansion may also make your bones ache.
2. Fractures
The weakened bones can break easily and cause pain, disability, infection, or bleeding. Fractures can also lead to other complications such as nerve damage, blood clots, or osteomyelitis (bone infection).
3. Nerve compression
The enlarged bones can press nearby nerves and cause symptoms such as numbness, tingling, weakness, or pain in the affected area. For example, if the spine is affected, it can cause severe back pain, leg pain, bladder or bowel problems, sexual dysfunction, or paralysis.
4. Deafness
If the skull is affected, it can compress the nerves that control hearing and cause deafness or hearing loss. This can affect your ability to communicate and socialize with others. It can also increase your risk of accidents or injuries due to reduced awareness of your surroundings.
5. Osteoarthritis
The abnormal bone growth can damage the cartilage that cushions the joints and cause osteoarthritis. This can lead to joint pain, stiffness, swelling, reduced range of motion, and difficulty moving. Osteoarthritis can also increase your risk of falls and fractures due to reduced balance and stability.
6. Tumors
In rare cases, Paget’s disease can increase the risk of developing benign (non-cancerous) or malignant (cancerous) tumors in the affected bones. These tumors can cause pain, swelling, bleeding, or fractures. They can also spread to other parts of the body and cause life-threatening complications.
How is Paget’s Disease Diagnosed?
If you have symptoms or signs of Paget’s disease, you should see your doctor for a diagnosis. Your doctor may examine you and check for any bone deformities or tenderness. A battery of tests will also confirm the diagnosis and assess the extent of the disease.
A common test is a blood test for alkaline phosphatase (ALP), which is an enzyme produced by osteoblasts. A high level of ALP suggests that your bones are breaking down and rebuilding faster than normal. Doctors might also do urine tests or take X-rays or bone scans.
What Treatments Are There for Paget’s disease?
1. Physical therapies
These include exercises, stretches, massage, hot or cold compresses, or electrical stimulation that can help reduce pain, improve mobility, strengthen muscles, and prevent stiffness. You may work with a physical therapist who can design a personalized program for you. You may also use assistive devices such as braces, splints, canes, or walkers to support your affected bones or joints and prevent falls or injuries.
2. Medication
Your doctor may prescribe medication to help you manage Paget’s disease. The most common medicine prescribed for this condition is a class called bisphosphonates, which are often used for osteoporosis patients. They slow down the osteoclasts and keep them from removing too much bone.[5]
Other types of medicine that may be used include calcitonin (which increases the rebuilding of bones), calcium and vitamin D (which promote bone health), and over-the-counter pain medications like acetaminophen.
3. Supplements
You may also benefit from taking supplements that support bone and joint health. For example, the Flexoplex Bone and Joint Support supplement is a natural supplement designed to improve your bone health and joint function. Flexdermal Joint Relief Cream is an excellent option that can help soothe bone pain and reduce inflammation.
The inflammation from Paget’s disease is the cause of many of the complications such as arthritis and nerve compression. It is best to ask your doctor before taking joint supplements, especially if you are also taking prescription medications to manage the disease.
4. Surgery
In some cases, you may need surgery to treat Paget’s disease or its complications, but this is rare. Surgery may be done to repair fractures, correct deformities, replace damaged joints with artificial ones (joint replacement), remove tumors, relieve nerve compression, or stabilize the spine.
Living With Paget's Disease of Bone: Diet, Exercise, and Bone Health
Calcium and Vitamin D Patients with Paget's disease should receive 1,000–1,500mg of calcium and at least 400 IU of vitamin D daily — this is especially important in patients being treated with bisphosphonates as the medication works more effectively when calcium levels are adequate. Note: oral bisphosphonates should be taken at least two hours apart from calcium supplements as calcium inhibits bisphosphonate absorption.
Exercise Regular exercise is essential for maintaining joint mobility and bone strength — weight-bearing exercise supports bone health while low-impact activities (swimming, cycling) reduce fracture risk. Avoiding sedentary behaviour is important for cardiovascular health given the heart failure risk in advanced cases.
Fall Prevention Paget's disease puts patients at high risk of fractures — fall-proofing the home (removing slippery rugs, installing grab bars, using a cane or walker if needed) is a practical and important recommendation.
Foods to Support Bone Health
- Calcium-rich: dairy, leafy greens, fortified foods
- Vitamin D: fatty fish, egg yolks, fortified milk, sunlight exposure
- Anti-inflammatory foods: omega-3 rich fish, turmeric, ginger — relevant for joint pain management
Risk Factors of Paget’s Disease
Some factors that may increase your risk of developing Paget’s disease include age, certain genetics and family history, and ethnicity. The disease mostly affects white people of European descent over the age of 50.
How Is Paget's Disease of Bone Diagnosed?
Alkaline Phosphatase (ALP) Blood Test — A high level of alkaline phosphatase in the blood is one of the primary indicators of Paget's disease — this is often the first alert that prompts further investigation. It is a simple, inexpensive blood test.
X-Rays — Paget's disease is almost always confirmed using X-rays — affected bones appear different from unaffected bones, showing areas of bone breakdown, enlargement, and deformity characteristic of the disease.
Bone Scan — Radioactive material is injected and travels to the most affected spots — bone scans help determine which bones are involved and how severe the disease is. They are more sensitive than X-rays for detecting early or mild disease.
Urine Tests — Measurements of bone breakdown products in urine can support diagnosis and monitor treatment response.
Note: Because Paget's disease often has no symptoms, it is frequently diagnosed incidentally — found on X-rays or blood tests done for an entirely different reason.
When Should You See a Doctor?
- Persistent bone or joint pain, especially in the pelvis, spine, skull, or legs
- Any sudden worsening of pain in a diagnosed Paget's patient, bone cancer must be ruled out
- Hearing loss or headaches in older adults — skull involvement should be investigated
- A family history of Paget's disease — genetic risk warrants proactive screening
- Elevated alkaline phosphatase found on a routine blood test — this is often the first sign
FAQ’s
What are the three phases of Paget's disease?
The initial phase, which lasts years or even decades, has no symptoms. Next is the mixed phase, in which osteoblasts overproduce abnormal, weak, new bone, and symptoms like pain, deformity, and fractures start to appear. In the final phase, the affected bones become hardened and less prone to breaking, but they are still weak and deformed and can cause inflammation.
Why is bone pain worse at night?
Bone pain caused by Paget’s disease can be worse at night for several reasons. When you’re not moving at night, your joints become stiffer. The pressure of lying down can also increase the blood flow to the affected bones and stimulate the nerve endings that sense pain.
What are the common bone diseases?
Osteoporosis, in which bones become thin and brittle, is one of the most common bone diseases. Other bone disorders include osteomalacia (which causes bones to become soft and weak), osteomyelitis (an infection inside the bones), osteosarcoma (a type of bone cancer), and osteogenesis imperfecta (a genetic disorder in which bones become very fragile). And, of course, there’s Paget’s disease.
Can bone disease be cured?
Some bone diseases can be cured with proper treatment, while others can only be managed with medication, surgery, or lifestyle changes. Paget’s disease, right now, doesn’t have any potential cure. However, you can manage it with calcium and vitamin D, regular exercise, medication, pain relief supplements (such as Flexoplex and Flexdermal), and physical therapy. Surgery is an option for extreme cases.
What is Paget's disease of bone?
Paget's Disease of Bone is a chronic condition that disrupts the normal process of bone remodeling. It can cause bones to become enlarged, weak, or misshapen.
Is Paget's disease of bone serious?
The severity varies from person to person, and some individuals may have mild symptoms. In certain cases, complications such as bone pain, fractures, or joint problems can occur.
What are the first signs of Paget's disease?
Early symptoms may include bone pain, joint discomfort, headaches, or changes in bone shape. Some people may not experience noticeable symptoms initially.
Is Paget's disease hereditary?
Genetics may play a role, and having a family history can increase the risk. Environmental factors may also contribute to its development.
What is the life expectancy of someone with Paget's disease of bone?
Many people with Paget's disease can have a normal life expectancy, especially when the condition is diagnosed and managed appropriately.
Can Paget's disease be cured?
There is currently no complete cure, but treatments may help manage symptoms, reduce complications, and slow disease activity.
What is the difference between Paget's disease and osteoporosis?
Paget's disease affects bone remodeling and structure, while Osteoporosis mainly causes reduced bone density and increased fracture risk.
What foods should you avoid with Paget's disease?
There are no specific forbidden foods, but limiting excessive alcohol and maintaining a balanced diet that supports bone health may be beneficial.
Takeaway
Paget’s disease of bone is a chronic condition that affects the way your bones grow and develop. It causes some of your bones to break down faster than normal while others grow larger but weaker than before. This can lead to pain, deformity, fractures, and other complications.
If you have Paget’s disease or suspect that you have it, you should consult your doctor for a proper diagnosis and treatment. Remember that Paget’s disease of bone can be controlled with medication, lifestyle changes, or even surgery. Educate yourself well and know the right supplements to alleviate your symptoms. Having a good understanding of your condition should allow you to live a fulfilling and active life.
References
1] ↑Chen X, Wang Z, Duan N, Zhu G, Schwarz EM, Xie C. Osteoblast–osteoclast interactions. Connective Tissue Research. 2017;59(2):99-107. doi:
2] ↑Rabjohns EM, Hurst K, Ghosh A, Cuellar MC, Rampersad RR, Tarrant TK. Paget’s Disease of Bone: Osteoimmunology and Osteoclast Pathology. Current Allergy and Asthma Reports. 2021;21(4). doi:
3] ↑Bouchette P, Boktor SW. Paget Disease. PubMed. Published 2020.
4] ↑NIAMS. Paget’s Disease of Bone. National Institute of Arthritis and Musculoskeletal and Skin Diseases. Published April 6, 2017.
5] ↑Ganesan K, Bansal P, Goyal A, Roane D. Bisphosphonate. PubMed. Published 2020.
Amr
Amr Adel Helmy is a 29-year-old pharmacist who has established himself as an experienced medical content writer. He holds a bachelor's degree in pharmacy from the esteemed Faculty of Pharmacy at Alexandria University. Amr's passion for writing stemmed from his interest in healthcare, and he combined his knowledge of the medical field with his creative flair to become a proficient content writer. Throughout his career, Amr has worked on various projects, including medical articles, research papers, and informative blog posts for clients in the healthcare industry. He has a comprehensive understanding of medical terminology and can translate complex medical jargon into easily understandable language for the general public. Amr's dedication to his craft is reflected in the quality of his work, and his attention to detail ensures that each piece of content he writes is accurate, informative, and engaging. When he's not working, Amr enjoys reading about the latest advancements in healthcare and spending time with his loved ones.
