History

Fact Explanation
Bone pain Bone pain is the most common symptom.Pain is of gradual onset and progressively increases. Site of pain depends on the bones affected and the severity of the disease. Paget's disease of the bone is due to remodeling disease of isolated skeletal areas where the bone turnover is markedly increased. Excessive breakdown & formation of bone causes affected bone to weaken and rarely results in fractures which are manifested as acute onset pain. Usually more than one bone is affected.The bones that are more commonly affected include the pelvis, spine, skull, and the long bone.Hip pain is common when the acetabulum and proximal femur are involved.[1,2,3]
Bone deformity Excessive remodeling of bone can result in bone deformities such as bowing of extremities,increased head size or curvature of spine.[1,2]
Warmth over the bones During the remodelling process a disorganized pattern of woven bone is formed.This woven bone is infiltrated by fibrous tissue and blood vessels specially in the osteoblastic stage. Hyper vascularity causes the warmth over the affected bone.[1,2]
Asymptomatic Up to 95% of individuals with Paget's disease of bones may be completely asymptomatic at first,yet may progressively heading to developing symptoms later.[1]
Hearing loss An enlarging petrous temporal bone in the skull which surrounds the inner ear can cause unilateral / bilateral hearing impairment which can be reversed with treatment. The hearing loss may be conductive, sensorineural or mixed. It may be accompanied with tinnitus and vertigo. [1,2,3]
Stiffness of joints When an affected bone is located next to a major joint, there is a risk of developing osteoarthritis.[1]
Dental malocclution Teeth may grow intra orally due to the intra oral force placed on teeth by enlarging skull.[2,3,4]
Drowsiness Vascular steal syndrome of the skull.[2]
Paralysis Vascular steal syndrome of the vertebrae.[5]
Toothache Excessive growth of normal cementum (calcified tissue) on the roots of one or more teeth which is called Hypercementosis may lead to aching pain of the affected tooth.[1,2,4]
Positive family history 15% of patients has a positive family history. There is a clear genetic predisposition to Paget's Disease of Bone. [1] The disease has highest prevalence in northwest England, and is also common in Australia, New Zealand and North America. It is relatively uncommon in Scandinavia, Africa and Asia. [3]
Age of onset >55 years Commonly presents after 55 years of age. An extremely rare form of Paget’s disease is found in children, known as Juvenile Paget’s disease.
References
  1. FERRAZ-DE-SOUZA BRUNO, CORREA PEDRO HENRIQUE SILVEIRA. Diagnosis and treatment of Paget's disease of bone: a mini-review. Arq Bras Endocrinol Metab [online] 2013 November, 57(8):577-582 [viewed 18 April 2014] Available from: doi:10.1590/S0004-27302013000800001
  2. ALMEIDA,L.P. et al. Paget's disease of bone and its complications due to delay in diagnosis,Acta Reumatol Port. [Online] 2011 Jul-Sep,36(3),288-91. [viewed 18 April 2014]. Available from: http://arp.spreumatologia.pt/download.php?filename=14_-_CC_-_Paget_ARP2010-140CC.pdf
  3. BRITTON,C, L. WALSH, Paget disease of bone - an update, Aust Fam Physician. [Online] 2012 Mar,41(3),100-3.[viewed 18 April 2014]. Available from: http://www.racgp.org.au/afp/201203/45951
  4. SHAKER,J.L. Paget's Disease of Bone: A Review of Epidemiology, Pathophysiology and Management, Ther Adv Musculoskelet Dis. [Online] Apr 2009, 1(2), 107–125.[viewed 18 April 2014]. Available from: doi: 10.1177/1759720X09351779
  5. DOUGLAS,D.L. Spinal cord dysfunction in Paget's disease of bone. Has medical treatment a vascular basis?, J Bone Joint Surg Br. [Online] 1981,63B(4),495-503.[viewed 18 April 2014]. Available from: http://www.bjj.boneandjoint.org.uk/content/63-B/4/495.long

Examination

Fact Explanation
Bone deformity An enlarged skull, bowing of the long bones of the extremities and spinal kyphosis. [1]
Localised bone tenderness Due to enlarged bone or sometimes due to pathological fractures.[1]
Warmth over the affected site Due to the hypervascularity.[1]
Bruits over the affected site Due to the hypervascularity.[1,2]
Frontal bossing/enlagred maxilla When the skull is affected.[1,2]
Joint tenderness This occurs when an affected bone is located next to a major joint, there is increased risk of osteoarthritis,bone angulation and deformity. [1]
Reduced range of movements of a joint This occurs when an affected bone is located next to a major joint, due to increased risk of osteoarthritis,bone angulation and deformity. [1]
Hearing loss Enlarging bone in the skull which surrounds the inner ear can cause unilateral / bilateral hearing impairment which is reversible with treatment. The involvement of the petrous temporal bone is the cause for this. The hearing loss or deafness may be sensorineural, conductive or mixed. [1,2]
Dental malocclution Teeth may spread intra orally due to the intra oral force placed on teeth by enlarging skull.[2,3]
Gait disturbances May be caused by cerebral compression secondary to skull involvement.[2]
Kyphosis Lumbar spine involvement.[2]
Paraparesis Muscle weakness and sensory loss can be caused when Paget's disease affects the thoracic spine.[2]
References
  1. FERRAZ-DE-SOUZA BRUNO, CORREA PEDRO HENRIQUE SILVEIRA. Diagnosis and treatment of Paget's disease of bone: a mini-review. Arq Bras Endocrinol Metab [online] 2013 November, 57(8):577-582 [viewed 18 April 2014] Available from: doi:10.1590/S0004-27302013000800001
  2. ALMEIDA,L.P. et al. Paget's disease of bone and its complications due to delay in diagnosis,Acta Reumatol Port. [Online] 2011 Jul-Sep,36(3),288-91. [viewed 18 April 2014]. Available from: http://arp.spreumatologia.pt/download.php?filename=14_-_CC_-_Paget_ARP2010-140CC.pdf
  3. BRITTON,C, L. WALSH, Paget disease of bone - an update, Aust Fam Physician. [Online] 2012 Mar,41(3),100-3.[viewed 18 April 2014]. Available from: http://www.racgp.org.au/afp/201203/45951

Differential Diagnoses

Fact Explanation
Fibrogenesis imperfecta ostium Extremely rare, acquired, metabolic bone disease related to a collagen defect in bone matrix inducing spontaneous fractures and is presented with bone pain.[1,2]
Bony metastasis Sclerotic or lytic metastases need to be considered. Primary site may be lung,prostate or breast. These lesions can present as bone pain or fractures.[1]
Osteopetrosis Age and female sex are predisposing factors. Osteoporosis itself has no symptoms but it causes fragile bones which results in fractures.The increased risk of falling associated with aging also leads to fractures.[1]
Osteoarthritis If an affected bone is located next to a major joint, there is a risk of concomitant osteoarthritis that presents as joint pain.[1]
References
  1. BRITTON,C, L. WALSH, Paget disease of bone - an update, Aust Fam Physician. [Online] 2012 Mar,41(3),100-3.[viewed 18 April 2014]. Available from: http://www.racgp.org.au/afp/201203/45951
  2. FERRAZ-DE-SOUZA BRUNO, CORREA PEDRO HENRIQUE SILVEIRA. Diagnosis and treatment of Paget's disease of bone: a mini-review. Arq Bras Endocrinol Metab [online] 2013 November, 57(8):577-582 [viewed 18 April 2014] Available from: doi:10.1590/S0004-27302013000800001

Investigations - for Diagnosis

Fact Explanation
Serum alkaline phosphatase (ALP) Most useful indicator of disease activity in Paget's disease. It is elevated because of increased osteoblastic activity and bone formation. Liver enzymes (Gamma-glutamyl transpeptidase and transaminases) are useful to exclude co-existing liver diseases.In this context bone-specific alkaline phosphatase (BSAP) level is more accurate.[1]
Serum Vitamin D Usually normal in Paget's disease but it is important to exclude osteomalacia which may also present with bone pain and a raised alkaline phosphatase level. [1]
Serum Calcium Usually normal in Paget's disease but it is important to exclude osteomalacia which may also present with bone pain and a raised alkaline phosphatase level. [1,2]
aminoterminal propeptide of type 1 collagen (P1NP) P1NP is a bone turnover marker.It is elevated as excessive bone formation occurs.[1]
serum C-terminal telopeptide (CTX) CTX is a bone turnover marker.It is elevated as an excessive bone resorption occurs.[1]
urinary N-terminal telopeptide (NTX), NTX is a bone turnover marker.It is elevated as an excessive bone resorption occurs.[1]
Plain X-ray Plain radiograph may show lesions with lytic, sclerotic or, both areas. X-rays of advanced lesions of the skull show “cotton wool spots”.[1]
Bone scintigraphy This test shows an area of intense radionuclide uptake where an increased bone turnover and vascularity occurs. Bone scans are useful in determining the extent and activity of the condition. It helps to identify additional sites affected by the disease and useful as a basal record for after-treatment comparison.[1]
Computerized tomography (CT) scan This is not essential for diagnosis but is useful when when neurological symptoms of compression are present.CT scan is occasionally needed when sclerotic or lytic metastases lesions have to be excluded.
Magnetic resonance imaging (MRI) Not essential for diagnosis but is useful when when neurological symptoms of compression are present. MRI is occasionally needed when sclerotic or lytic metastases lesions have to be excluded.[1,2]
Bone biopsy This is infrequently needed when the differential diagnosis includes cancer, when the bone cortex cannot be clearly visualized or the lesions are atypical in pattern or location.[1,2]
References
  1. FERRAZ-DE-SOUZA BRUNO, CORREA PEDRO HENRIQUE SILVEIRA. Diagnosis and treatment of Paget's disease of bone: a mini-review. Arq Bras Endocrinol Metab [online] 2013 November, 57(8):577-582 [viewed 18 April 2014] Available from: doi:10.1590/S0004-27302013000800001
  2. BRITTON,C, L. WALSH, Paget disease of bone - an update, Aust Fam Physician. [Online] 2012 Mar,41(3),100-3.[viewed 18 April 2014]. Available from: http://www.racgp.org.au/afp/201203/45951

Investigations - Fitness for Management

Fact Explanation
Serum urea Acute renal failure is a rare but serious side effect of bisphosphonates. Therefore assessment of baseline renal function is necessary, If elevated; Zoledronic acid becomes the drug of choice.[1]
Serum creatinine Acute renal failure is a rare but serious side effect of bisphosphonates. Therefore assessment of baseline renal function is necessary, If elevated; Zoledronic acid becomes the drug of choice. [1]
Serum Vitamin D Vitamin D deficiency should be corrected before bisphosphonate therapy to avoid hypocalcaemia.[1]
References
  1. FERRAZ-DE-SOUZA BRUNO, CORREA PEDRO HENRIQUE SILVEIRA. Diagnosis and treatment of Paget's disease of bone: a mini-review. Arq Bras Endocrinol Metab [online] 2013 November, 57(8):577-582 [viewed 18 April 2014] Available from: doi:10.1590/S0004-27302013000800001

Investigations - Followup

Fact Explanation
Serum alkaline phosphatase (ALP) ALP should be done at a frequncy of 3/6 monthly after bisphosphonate therapy for alendronate or risedronate; and 6 monthly if pamidronate is used.If ALP levels rise above 75% of the normal upper limit, treatment should be reinstated.[1]
References
  1. FERRAZ-DE-SOUZA BRUNO, CORREA PEDRO HENRIQUE SILVEIRA. Diagnosis and treatment of Paget's disease of bone: a mini-review. Arq Bras Endocrinol Metab [online] 2013 November, 57(8):577-582 [viewed 18 April 2014] Available from: doi:10.1590/S0004-27302013000800001

Management - General Measures

Fact Explanation
Nonsteroidal anti-inflammatory drugs Effective in relieving pain.[1,2]
Shoe raises and orthotics Important to assist with pain relief and gait difficulties in patients with deformities.[1,2]
References
  1. FERRAZ-DE-SOUZA BRUNO, CORREA PEDRO HENRIQUE SILVEIRA. Diagnosis and treatment of Paget's disease of bone: a mini-review. Arq Bras Endocrinol Metab [online] 2013 November, 57(8):577-582 [viewed 18 April 2014] Available from: doi:10.1590/S0004-27302013000800001
  2. SHAKER,J.L. Paget's Disease of Bone: A Review of Epidemiology, Pathophysiology and Management, Ther Adv Musculoskelet Dis. [Online] Apr 2009, 1(2), 107–125.[viewed 18 April 2014]. Available from: doi: 10.1177/1759720X09351779

Management - Specific Treatments

Fact Explanation
Bisphosphonates Bisphosphonates such as alendronate, risedronate, pamidronate and zoledronic acid are potent anti resorptive agents.They are very effective in reducing metabolic activity of the affected site. Bisphosphonates relieve the bone pain effectively. [1]
Calcitonin Slows bone loss and bone growth and gives relief of bone pain.[1,2,3]
Total joint replacement Indicated when the pain is not relieved by anti pagetic medication.[3,4]
Intramedullary fixation Indicated for unstable fractures in long bones.[3,4]
References
  1. FERRAZ-DE-SOUZA BRUNO, CORREA PEDRO HENRIQUE SILVEIRA. Diagnosis and treatment of Paget's disease of bone: a mini-review. Arq Bras Endocrinol Metab [online] 2013 November, 57(8):577-582 [viewed 18 April 2014] Available from: doi:10.1590/S0004-27302013000800001
  2. SHAKER,J.L. Paget's Disease of Bone: A Review of Epidemiology, Pathophysiology and Management, Ther Adv Musculoskelet Dis.[Online] Apr 2009, 1(2), 107–125.[viewed 18 April 2014]. Available from: doi: 10.1177/1759720X09351779
  3. BRITTON,C, L. WALSH, Paget disease of bone - an update, Aust Fam Physician. [Online] 2012 Mar,41(3),100-3.[viewed 18 April 2014]. Available from: http://www.racgp.org.au/afp/201203/45951
  4. ALMEIDA,L.P. et al. Paget's disease of bone and its complications due to delay in diagnosis,Acta Reumatol Port. [Online] 2011 Jul-Sep,36(3),288-91. [viewed 18 April 2014]. Available from: http://arp.spreumatologia.pt/download.php?filename=14_-_CC_-_Paget_ARP2010-140CC.pdf