What is Paget disease of bone?
Paget disease of bone is a chronic skeletal disorder characterized by abnormal bone remodeling, where bones become enlarged, weakened, and prone to deformity. The condition affects the normal process of bone breakdown and formation, leading to disorganized bone structure that is often larger but weaker than healthy bone. While historically considered rare, Paget disease affects approximately 1-2% of people over age 55 in Western populations, making it one of the most common metabolic bone diseases after osteoporosis. The disease can occur sporadically or run in families, with some regions showing higher prevalence rates.
Key statistics
| Prevalence: | 1-2% of adults over age 55 in Western countries |
| Age of onset: | Typically after age 40, peak incidence 55-85 years |
| Gender ratio: | Slightly more common in men (1.5:1 ratio) |
| Familial cases: | 15-30% have family history |
Symptoms
Common symptoms: Bone pain, joint pain, bone deformity, hearing loss, headaches, fractures, increased head size, bowing of legs.
Many people with Paget disease experience no symptoms initially, with the condition often discovered incidentally through X-rays or blood tests performed for other reasons. When symptoms do develop, bone pain is the most frequent complaint, typically described as a deep, aching sensation that may worsen at night or with activity. The pain often affects the spine, pelvis, skull, and long bones of the legs.
Bone deformity becomes apparent as the disease progresses, with affected bones becoming enlarged and misshapen. The skull may increase in size, leading to hat size changes and potential hearing loss if the bones around the ear are involved. Leg bones may bow outward, causing a characteristic walking pattern and height loss.
Fractures can occur more easily in affected bones, even with minor trauma, due to the weakened bone structure despite increased size. Joint problems may develop when Paget disease affects bones near major joints, leading to arthritis-like symptoms. Some patients experience headaches, particularly when skull bones are involved, and may notice changes in facial features due to skull enlargement.
Causes and risk factors
Paget disease results from a combination of genetic susceptibility and environmental factors. The exact cause remains unclear, but research suggests viral infections may trigger the disease in genetically predisposed individuals. Several genes have been identified that increase susceptibility, including SQSTM1, TNFRSF11A, and CSF1, which are involved in bone cell function and regulation.
The disease can occur sporadically or be inherited in an autosomal dominant pattern with incomplete penetrance, meaning not everyone who inherits the genetic variant will develop the condition. Environmental factors, particularly viral infections in childhood or young adulthood, may serve as triggers in susceptible individuals.
Risk factors include advanced age, family history of Paget disease, and geographic location. The condition is most common in people of Northern European descent and shows distinct geographic clustering, with higher rates in the United Kingdom, Australia, and parts of Europe. Interestingly, the prevalence appears to be declining in some traditional high-prevalence areas.
Prevention
Currently, there are no established methods to prevent Paget disease, as it appears to result from a complex interaction of genetic predisposition and environmental triggers that are not fully understood or controllable. For individuals with a strong family history, genetic counseling may be beneficial to understand inheritance patterns and risks for future generations.
Regular monitoring may be recommended for family members of affected individuals, particularly siblings and children, though routine screening of asymptomatic relatives remains controversial. Early detection through periodic alkaline phosphatase testing and clinical evaluation may help identify the disease before significant bone damage occurs, allowing for earlier intervention.
Maintaining good bone health through adequate calcium and vitamin D intake, regular weight-bearing exercise, and avoiding smoking may help optimize overall skeletal health, though these measures do not prevent Paget disease specifically.
Complications
Without treatment, Paget disease can lead to several serious complications. Progressive bone deformity may result in significant disability, particularly when weight-bearing bones are affected. Hip and knee arthritis commonly develops due to altered bone structure and joint mechanics, potentially requiring joint replacement surgery.
Hearing loss occurs in 30-50% of patients when skull bones are involved, due to compression of auditory nerves or disruption of the tiny bones in the middle ear. Neurological complications may arise from bone overgrowth compressing nerves or the spinal cord, leading to pain, numbness, or weakness.
Heart failure can develop in severe cases with extensive bone involvement, as the increased blood flow through affected bones places additional strain on the cardiovascular system. Although rare (less than 1% of cases), malignant transformation to bone cancer (osteosarcoma) represents the most serious complication and requires immediate treatment.
Fractures through pagetic bone heal poorly and may require surgical intervention. Dental problems may occur when facial bones are affected, and kidney stones can develop due to increased calcium turnover.
Diagnosis
Diagnosis of Paget disease typically begins with elevated alkaline phosphatase levels found on routine blood tests, prompting further investigation. Bone-specific alkaline phosphatase and other bone turnover markers like N-telopeptide may be elevated, reflecting increased bone remodeling activity.
Plain X-rays remain the cornerstone of diagnosis, showing characteristic changes including bone enlargement, cortical thickening, coarse trabecular patterns, and the pathognomonic “cotton wool” appearance in skull bones. Bone scans using technetium-99m can identify the extent of disease and detect asymptomatic lesions throughout the skeleton.
CT scans may provide additional detail about bone structure and complications, while MRI can help evaluate soft tissue involvement and rule out malignant transformation. In unclear cases, bone biopsy may be necessary, though this is rarely required with typical clinical and radiological findings.
Audiometry should be performed when skull involvement is present to assess hearing function. Regular monitoring includes alkaline phosphatase levels and imaging studies to track disease progression and treatment response.
Treatment
Treatment focuses on controlling bone turnover, relieving pain, and preventing complications. Bisphosphonates are the first-line therapy, with zoledronic acid and risedronate being the most commonly used agents. These medications effectively suppress abnormal bone remodeling and can lead to significant improvements in pain and bone turnover markers.
Zoledronic acid is often preferred for its convenience, administered as a single annual intravenous infusion, while risedronate may be given orally for patients who cannot receive intravenous therapy. Treatment is typically recommended for symptomatic patients or those at risk for complications.
Calcitonin may be used in patients who cannot tolerate bisphosphonates, though it is generally less effective. Pain management may require additional medications including analgesics and anti-inflammatory drugs.
Surgical intervention may be necessary for fractures, joint replacement in cases of severe arthritis, or decompression procedures for neurological complications. Hearing aids may help with hearing loss, though bone conduction devices may be more effective in some cases.
Physical therapy and assistive devices can help maintain mobility and function, particularly important for patients with bone deformities or joint problems.
Prognosis
With appropriate treatment, the prognosis for Paget disease is generally good. Bisphosphonate therapy effectively controls disease activity in most patients, with significant reductions in bone turnover markers and improvement in symptoms. Many patients experience substantial pain relief and prevention of further bone deformity.
Life expectancy is typically normal, though complications such as heart failure in extensive disease or rare malignant transformation can affect outcomes. Early diagnosis and treatment significantly improve prognosis by preventing irreversible complications like severe bone deformity, hearing loss, and neurological problems.
Response to treatment is usually evident within 3-6 months, with biochemical markers normalizing in many patients. However, existing bone deformities are generally irreversible, emphasizing the importance of early intervention. Long-term monitoring is essential to assess treatment response and detect potential complications.
Quality of life improvements are often dramatic with appropriate therapy, particularly regarding pain control and functional capacity. Most patients can maintain active lifestyles with proper treatment and supportive care.
Quality of life
Living with Paget disease requires ongoing attention to bone health and symptom management. Regular exercise is beneficial but should be tailored to individual limitations, focusing on low-impact activities that maintain bone strength without excessive stress on affected bones. Swimming, walking, and gentle resistance exercises are often well-tolerated.
Dietary considerations include ensuring adequate calcium (1000-1200mg daily) and vitamin D intake to support overall bone health. Weight management is important to reduce stress on weight-bearing bones, particularly when leg bones are affected.
Home modifications may be necessary for safety, including grab bars, non-slip surfaces, and appropriate lighting to prevent falls. Hearing assistance devices can significantly improve communication and social engagement for those with hearing loss.
Mental health support is important, as chronic pain and physical limitations can lead to depression and anxiety. Support groups and counseling can provide valuable coping strategies. Many patients find that connecting with others who have the condition helps normalize their experience and provides practical advice.
Work accommodations may be needed depending on the physical demands of one’s job and the extent of bone involvement. Most patients can continue working with appropriate modifications and treatment.
Pregnancy and fertility
Paget disease rarely affects women of childbearing age, as onset typically occurs after age 40. When pregnancy does occur in women with Paget disease, careful monitoring is essential. Bisphosphonate therapy should be discontinued before conception, as these medications can cross the placenta and potentially affect fetal bone development.
The disease itself does not typically impact fertility, though genetic counseling may be appropriate for individuals with familial forms of the condition. The autosomal dominant inheritance pattern with incomplete penetrance means children have a variable risk of developing the disease later in life.
During pregnancy, alternative pain management strategies may be necessary, focusing on physical therapy, safe analgesics, and supportive measures. Calcium and vitamin D requirements increase during pregnancy and breastfeeding, requiring careful monitoring and supplementation.
Delivery considerations may include assessment of pelvic bone involvement, though most women with Paget disease can deliver vaginally without complications.
Children
Paget disease is extremely rare in children and young adults. When it does occur in pediatric patients, it often represents a more severe, aggressive form of the disease that may be associated with specific genetic mutations.
Juvenile Paget disease is a distinct condition with different genetic causes and clinical features, including more widespread bone involvement and potential growth disturbances. Children with family histories of Paget disease do not require routine screening, as the condition typically manifests much later in life.
For families affected by Paget disease, genetic counseling can help parents understand the inheritance patterns and make informed decisions about family planning. Education about bone health, including proper nutrition and exercise habits, benefits all children regardless of genetic risk.
When to see a doctor
Seek immediate medical attention for sudden severe bone pain, signs of fracture (inability to bear weight, obvious deformity), or neurological symptoms such as weakness, numbness, or severe headaches that could indicate nerve compression.
Routine medical evaluation is warranted for persistent bone or joint pain, particularly in adults over age 40, gradual hearing loss, or noticed changes in bone shape or size. Family members of affected individuals should discuss screening recommendations with their healthcare providers.
Regular follow-up appointments are essential for diagnosed patients to monitor treatment response, assess for complications, and adjust therapy as needed. Contact healthcare providers for new or worsening symptoms, medication side effects, or concerns about disease progression.
Annual or biannual monitoring typically includes blood tests, imaging studies, and clinical assessments to ensure optimal disease management and early detection of complications.
Regional context
While Paget disease shows distinct geographic variation globally, specific prevalence data for the Caucasus region (Georgia, Armenia, Azerbaijan) and Eastern Mediterranean countries is limited. The condition is traditionally most common in populations of Northern European descent, with lower rates reported in Asian, African, and Middle Eastern populations.
However, migration patterns and genetic admixture may influence regional prevalence rates. Healthcare providers in these regions should maintain awareness of Paget disease, particularly when evaluating patients with Northern European ancestry or unexplained bone pain and elevated alkaline phosphatase levels.
The Global Medical Journal welcomes contributions from healthcare professionals in the Caucasus and Eastern Mediterranean regions to better understand the local epidemiology and clinical presentation of Paget disease in these populations.
Research and clinical trials
Current research focuses on understanding the genetic basis of Paget disease, developing new therapeutic targets, and improving treatment strategies. Studies are investigating the role of autophagy dysfunction, viral triggers, and environmental factors in disease development.
New therapeutic approaches under investigation include novel bisphosphonates with improved efficacy, targeted therapies directed at specific genetic pathways, and combination treatments. Research into preventing hearing loss and other complications continues to advance.
Clinical trials are ongoing to evaluate optimal dosing regimens, treatment duration, and strategies for maintaining long-term disease control. Studies comparing different bisphosphonates and investigating their effects on quality of life outcomes are providing valuable insights.
Patients interested in participating in research can search for relevant studies at ClinicalTrials.gov or discuss opportunities with their healthcare providers. Participation in research contributes to advancing understanding and treatment of this condition.
Frequently asked questions
Is Paget disease hereditary?
Paget disease can be inherited in some families (15-30% of cases) following an autosomal dominant pattern with incomplete penetrance. However, most cases occur sporadically without family history. Having an affected family member increases risk but doesn’t guarantee disease development.
Will I need treatment if I have no symptoms?
Treatment recommendations depend on several factors including location of affected bones, risk of complications, and biochemical markers. Asymptomatic patients with skull involvement, weight-bearing bone disease, or very high alkaline phosphatase levels may benefit from treatment to prevent complications.
How often do I need monitoring?
Following initial treatment, monitoring typically occurs every 3-6 months initially, then annually or biannually once stable. This includes blood tests to check alkaline phosphatase levels and periodic imaging studies to assess disease activity and detect complications.
Can Paget disease turn into cancer?
Malignant transformation to bone cancer (osteosarcoma) is rare, occurring in less than 1% of patients. Risk is higher in those with extensive disease or long-standing untreated disease. Sudden increase in pain or rapid bone growth should prompt immediate medical evaluation.
Will my hearing loss improve with treatment?
Hearing loss due to Paget disease is often irreversible, as it results from structural changes in skull bones. However, early treatment may prevent further deterioration. Hearing aids or bone conduction devices can often provide significant improvement in hearing function.
Support and resources
- Paget Foundation – Comprehensive information and patient support
- National Organization for Rare Disorders (NORD) – Rare disease information and advocacy
- Orphanet – European reference portal for rare diseases
- EURORDIS – European rare disease patient advocacy
- National Osteoporosis Society – Bone health information and support
- International Osteoporosis Foundation – Global bone health resources
Related conditions
Sources: Orphanet (orpha.net), OMIM, GeneReviews (
Cite this page
GMJ News Desk. “Paget disease of bone.” GMJ News — Georgian Medical Journal, 2 June 2026. https://news.gmj.ge/condition/paget-disease-of-bone/
Licensed under CC BY 4.0. Free to share with attribution to GMJ News.Sources: Orphanet (orpha.net), OMIM, GeneReviews (NCBI), WHO ICD-11, EULAR/ACR guidelines. Schema.org MedicalCondition structured data included.
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