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<div class="noeditbox">Welcome to [[Pathophysiology of Complex Patient Problems|PT 635 Pathophysiology of Complex Patient Problems]] This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!</div><div class="editorbox">
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'''Original Editors '''- [[User:Kevin Schoenfeld|Kevin Schoenfeld from]] [[Pathophysiology of Complex Patient Problems|Bellarmine University's&nbsp;Pathophysiology of Complex Patient Problems project.]]  
'''Original Editors '''- [[User:Kevin Schoenfeld|Kevin Schoenfeld from]] [[Pathophysiology of Complex Patient Problems|Bellarmine University's&nbsp;Pathophysiology of Complex Patient Problems project.]]  


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== Definition/Description  ==
== Introduction ==
[[File:Pagets Disease.jpeg|right|frameless]]
Paget's disease of the [[bone]] is a [[Metabolic and Endocrine Disorders|metabolic]] bone disease caused by increased bone resorption followed by excessive unrestricted bone formation, due to activated osteoclasts. The normal bone marrow is replaced by increased&nbsp;and unorganized&nbsp;[[collagen]] and fibrous tissue, which lacks the structural stability of normal bone. This increased bone mass formation leads to complications eg [[Fracture|fractures]], [[Osteoarthritis|arthritis]], deformities, [[Pain Behaviours|pain]], and&nbsp;to a patient's weakened condition. Paget's disease is the second most common metabolic bone disease to [[osteoporosis]]&nbsp;<ref name="Goodman and Fuller">Goodman C, Fuller K. Pathology: Implications for the Physical Therapist. 3rd ed. St. Louis, Missouri: Saunders Elsevier;2009.</ref><ref name="Josse">Josse RG, Hanley DA, Kendler D, Marie LG, Adachi JD, Brown J. [https://cimonline.ca/index.php/cim/article/view/2897 Diagnosis and treatment of Paget’s disease of bone.] Clinical and Investigative Medicine. 2007 Oct 1:E210-23.</ref><ref name="Seitz">Seitz S, Priemel M, von Domarus C, Beil FT, Barvencik F, Amling M, Rueger JM. [https://link.springer.com/content/pdf/10.1007/s00068-008-8208-4.pdf The second most common bone disease: a review on Paget’s disease of bone.] European Journal of Trauma and Emergency Surgery. 2008 Dec 1;34(6):549-53.</ref>


Also known as Osteitis Deformans, Paget's disease of the bone is a metabolic bone disease caused by increased bone resorption followed by excessive unrestricted bone formation, due to activated osteoclasts. The normal bone marrow is replaced by increased&nbsp;and unorganized&nbsp;collagen and fibrous tissue, which lacks the structural stability of normal bone. This increased bone mass formation leads to complications such as fractures, arthritis, deformities, pain, and&nbsp;to a patient's weakened condition.&nbsp;<ref name="Goodman and Fuller">Goodman C, Fuller K. Pathology: Implications for the Physical Therapist. St. Louis, Missouri: Saunders Elsevier;2009.</ref><ref name="Josse">Josse R, Hanley D, Kendler D, Marie LG, Adachi J, Brown J. "Diagnosis and Treatment of Paget's Disease of the Bone".Clin Invest Med August 2007: E210-E223.</ref>
The prognosis for patients who are treated is good, especially if the disease is in its early stages. There is no cure for Paget disease but the disorder can be controlled from progressing.<ref name=":0" />


&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;{{#ev:youtube|TwNzgQ0H_9U}}
== Etiology ==
The exact cause of Paget's disease is unknown, though it is thought to be a slow,&nbsp;[[Viral Infections|viral]]&nbsp;bone infection (the family of paramyxoviruses) due to risk factors that include&nbsp;a gene-environment interaction. <ref name="Goodman and Fuller" /><ref name="Josse" /><ref name="Goodman and Snyder">Goodman C, Snyder T. Differential Diagnosis for Physical Therapists: Screening for Referral. 6th ed. St. Louis, Missouri: Saunders Elsevier, 2007.</ref>  Some research suggests that the osteoclastic abnormalities are due to a cytokine is known as IL-6, found solely in the bone marrow of Paget's disease populations.<ref name=":0" /> The prevalence and causes of Paget's disease has&nbsp;been associated with genetic and geographical factors. A positive family history is reported in as many as 40% of patients with Paget's disease&nbsp;<ref name="Goodman and Fuller" /><ref name="Josse" /><ref name="Goodman and Snyder" /><ref name="Schneider">Schneider D, Hofmann MT,Peterson JA.  Diagnosis and Treatment of Paget’s Disease of Bone. American Family Physician. 2002; 65(10):2069-72</ref>. Paget's disease is mostly seen in an autosomal dominant distribution, and there have been three identifiable&nbsp;chromosomal regions associated with Paget's disease. <ref name="Goodman and Fuller" /> Geographically, populations in European, British, and Australian origin, and a migratory influence also play an important role especially in countries which of the early population migrated from Britain (United States, Australia, New Zealand, Canada).<ref name="Goodman and Fuller" />&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;


== Prevalence  ==
== Epidemiology ==
 
Paget disease is usually seen in individuals older than 50 years. It is common in Caucasians of northern European descent. Paget disease is equally common in males and females. In the US, it affects 1-3 million people with most being asymptomatic. The disorder is slightly more common in white males. The disorder usually presents in the 4-5 decade of life but the diagnosis is often made a decade later<ref name=":0">Bouchette P, Boktor SW. Paget disease. InStatPearls [Internet] 2021 Jul 13. StatPearls Publishing. Available:https://www.ncbi.nlm.nih.gov/books/NBK430805/<nowiki/>(accessed 13.5.2022)</ref>.
*After Osteoporosis, Paget's disease is the most common skeletal disorder.&nbsp;Paget's disease affects&nbsp;approximately 2% to 5% of the population older than 40, and seen in 10% of the population over the age of 70 years old. <ref name="Goodman and Snyder">Goodman C, Snyder T. Differential Diagnosis for Physical Therapists: Screening for Referral. St. Louis, Missouri: Saunders Elsevier, 2007.</ref>
*Paget's disease affects men more than woman by a 3:2 ratio.&nbsp;<ref name="Goodman and Snyder" />
*Evidence has shown that&nbsp;genetic factors of 40% of the individuals with Paget's disease have first-degree relatives with Paget's disease. <ref name="Goodman and Snyder" />
*A prevalence of 2% in certain British cities can be contrasted with rates in Lancaster, England, which had a prevalence of 8.3% The United States, Great Britain, Australia, and New Zealand have high prevalences because of significant populations with northern European ancestry and a large population of British migrants.5 The disease is rare in Asia, Africa, Scandinavia, India, and Japan&nbsp;<ref name="Chow">Chow, David. Emedicine. Med Web:Paget Disease. http://emedicine.medscape.com/article/311688-overview. Updated December 18,2008. Accessed April 2, 2010.</ref>
*Recently, the prevalence of Paget's disease has decreased by 50% of the prevalence in 1983.<ref name="Mayo">Medical Foundation for Medical Education and Research. Mayo Clinic: Paget’s disease of bone.http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485. Updated August 15, 2008. Accessed March 3, 2010.</ref><br><br>
 
<br>


== Characteristics/Clinical Presentation  ==
== Characteristics/Clinical Presentation  ==
[[File:Paget's disease of Right Hip Bone.jpg|alt=This file is licensed under the Creative Commons Attribution-Share Alike 4.0 International license.|thumb|Paget's R Hip Bone]]A patient with Paget's disease will often present as asymptomatic. However, the clinical presentation of a symptomatic patient varies greatly, due to the different levels of severity of this condition. The spine and pelvis are commonly affected and among the long bones, the [[femur]] is often involved. Symptomatic patients can present with the following:


A patient with Paget's disease will often present as asymptomatic. However, the clinical presentation of a symptomatic patient varies greatly, due to the different levels of severity of this condition.
* [[Pain Assessment|Pain]] involving the bones and joints
 
* Diffuse joint stiffness
*Bone pain presents as&nbsp;constant, deep, and aching.&nbsp;Bones most commonly affected by Paget's disease include: Pelvis, Lumbar spine, Sacrum, Femur, Tibia, Skull, Shoulders, Thoracic spine, Cervical spine, and the ribs.&nbsp;<ref name="Goodman and Fuller" />
* Abnormally enlarged [[skull]]
*Joint pain including swelling and stiffness&nbsp;may present due to the&nbsp;damage&nbsp;of the&nbsp;cartilage lining the joints near the affected bones. <ref name="Mayo" />
* Musculoskeletal deformities
*The most common symptom experienced with symptomatic Paget's disease is an aching pain worse at night that decreases with physical activity. <ref name="Goodman and Fuller" /><ref name="Josse" />
* Loss of hearing (due to the involvement of the petrous temporal bone)
*Muscular pain may present as referred pain from bony structures involved or as a complication due to the mechanical changes from the joint and bone defects. <ref name="Goodman and Fuller" /><ref name="Josse" />
* [[Migraine Headache|Migraines]]
*Neurological pain due to a compressed nerve root or the spinal cord may cause symptoms such as&nbsp;a sharp pain,&nbsp;numbness, tingling, weakness, hearing loss, and double vision. <ref name="Goodman and Snyder" />
* [[Fracture|Fractures]]
 
* [[Heart Failure|Heart failure]]
&nbsp;Other clinical presentations may include <ref name="Goodman and Snyder" />:
* [[Cranial Nerves|Cranial nerve]] [[neuropathies]]
 
* [[Headaches and Dizziness|Headaches]]
*Bone deformities such as bowlegs, and increased skull size
* Enlarged skull
*Warmth over the affected bone or joint.
* Skull and jaw deformity
*Facial weakness or numbness.
*Loss of bowel or bladder control which may indicate spinal cord damage.
 
== Associated Co-morbidities  ==
 
*Paget's disease has an insidious onset and the disease progresses slowly. When Paget's disease is present in many bones the overactive osteoclasts have the ability to release enough calcium in the blood stream to cause hypercalcemia, which can&nbsp;cause symptoms such as fatigue, weakness, loss of appetite, abdominal pain, and constipation. <ref name="Josse" /><ref name="Goodman and Fuller" />
*Neurological complications due to nerve entrapment syndromes or nerve root compression as they exit the foramina which is narrowed by the increased bone mass of Paget's disease. <ref name="Josse" />
*Hearing loss due to increased temporal bone mass and 8th spinal nerve compression. <ref name="Josse" />
*Bone deformities such as increased skull size and bowing of limbs. <ref name="Josse" />
*People with Paget's disease are also more susceptible to fractures because Pagetic bone is weaker than normal bone.<ref name="Goodman and Fuller" /><ref name="Josse" />
*Cardiovascular problems may arise when 1/3 to 1/2 of the skeleton is involved, heart failure is possible due to an increased cardiac output (this is the most common cause of death in people with advanced Paget's disease).<ref name="Goodman and Fuller" />
*A rare complication is sarcoma which is a bone cancer (also known as osteosarcoma or osteogenic sarcoma). This cancer may develop in Pagetic bone, which occurs in less than 1 percent of people with Paget's disease and usually doesn't develop until many years after the onset.<ref name="Goodman and Snyder" /><br>
 
== Medications  ==
 
*Although only 5% of people with Paget's disease experience pain, the type of pain is very important to determine. <ref name="Josse" />
*Pain that is caused by an elevated SAP (Serum Alkaline Phosphatase) and resulting in an increased bone turnover, responds well to osteoclasts inhibitors such as bisphosphonates&nbsp;(ex. Zoledronic acid, Risedronate, Alendronate, Pamidronate, Etidronate Disodium). <ref name="Goodman and Fuller" /><ref name="Josse" />
*The gold standard for drug therapy for Paget's disease is bisphosphonates, which are aimed at decreasing abnormal bone resorption. The goal is to cause full remission of Paget's disease and establishing normal levels of SAP. These medications&nbsp;are intended to increase bone density and reduce the activity of Paget's disease.&nbsp;<ref name="Goodman and Fuller" /><ref name="Josse" /><ref name="Goodman and Snyder" />
*Patients who may not tolerate bisphosphonates can&nbsp;use Calcitonin, a natural hormone involved in calcium regulation and bone metabolism. Calcitonin is a drug that&nbsp;is administered by injection.<ref name="Goodman and Snyder" />
*Pain caused by nerve compression (caused by bone deformity or arthritis) should be treated with standard pain relievers such as NSAIDS and analgesics.<ref name="Josse" />
 
== Diagnostic Tests/Lab Tests/Lab Values  ==
 
*Radiographic Imaging (primary): Plain X-Ray should be performed in at least one skeletal area (usuallly in a painful area) to help confirm the diagnosis of Paget's disease. X-rays can also diagnose secondary conditions such as a fracture or arthritis. <ref name="Goodman and Fuller" /><ref name="Josse" />
*Isotopic Bone Scan (Scintigraphy) are more sensitive radiographic images which highlight affected areas of Paget's disease, but&nbsp;the Scintigraphy&nbsp;is only positive if the condition is active. <ref name="Josse" />
*Scintigraphy is recommended for patients with symptomatic and asymptomatic Paget's disease to determine the severity and involvement of the skeletal structures. <ref name="Josse" />
*Scintigraphy can also be used to monitor a patient's therapeutic&nbsp;response to therapy based on the results of a second diagnostic test. <ref name="Goodman and Fuller" /><ref name="Josse" />
*A Bone Biopsy may also be performed (especially if the X-ray and CT scan&nbsp;are negative)&nbsp;to make a differential diagnosis which would rule out hyperparathyroidism, bone metastasis, multiple myeloma, and fibrous dysplasia. <ref name="Josse" />
*Biochemical Tests: Serum Alkaline Phosphatase (SAP) is an enzyme that is produced by bone cells and are excessively produced in bone containing Paget's disease. <ref name="Goodman and Fuller" /><ref name="Josse" />
*In 85% of patients with Paget's disease, SAP levels are elevated. A solid relationship exists between the severity of the disease measured by the scintigraphy, and the increased levels of SAP in untreated Paget's disease. <ref name="Josse" />
*Many other biochemical tests are available which assess bone matrix resorption such Urinary and Serum Deoxypyridinoline, N-telopeptide, and Alpha and Beta C telopeptides, but none of these tests are as readily available as the SAP diagnostic lab test. <ref name="Josse" />
 
== Causes  ==
 
*The exact cause of Paget's disease is unknown, though it is thought to be a slow,&nbsp;viral&nbsp;bone infection due to risk factors that include&nbsp;a gene-environment interaction. <ref name="Goodman and Fuller" /><ref name="Josse" /><ref name="Goodman and Snyder" />
*The prevalence and causes of Paget's disease has&nbsp;been associated with genetic and geographical factors. <ref name="Goodman and Fuller" /><ref name="Josse" /><ref name="Goodman and Snyder" />
*Paget's disease is mostly seen in an autosomal dominant distribution, and there have been three identifiable&nbsp;chromosomal regions associated with Paget's disease. <ref name="Goodman and Fuller" />
*Geographically, populations in European, British, and Australian origin, and a migratory influence also play an important role especially in countries which of the early population migrated from Britain (United States, Australia, New Zealand, Canada).<ref name="Goodman and Fuller" />
 
&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;{{#ev:youtube|dC2TrqcEJEA}}
 
== Systemic Involvement  ==
 
There are many different systems that may be affected by Paget's disease and many associated conditions<ref name="Goodman and Fuller" />:
 
'''Pain'''
 
*Headache
*Muscular
*Radicular
*Skeletal
*Osteoarthritis
 
'''Skeletal'''
 
*Kyphoscoliosis
*Bone Bowing (outward bowed femur or forward bowed femur)
*Coxa Varus (waddling gait)
*Acetabular protrusion
*Osteoarthritis
*Fractures  
*Bone enlargement
*Vertebral compression
 
'''Muscular'''
 
*Myalgia
*Stiffness
*Weakness
 
'''Neurological'''
 
*Nerve compression conditions including cranial, spinal, and peripheral nerves
*Hearing loss
*Mental confusion due to deteriorated cognitive function
 
'''Cardiovascular'''
 
*Heart failure  
*Increased vascularity (causing increased skin temperature around affected area)
*Increased cardiac output
 
'''Other'''
 
*Overall fatigue
*Vertigo
*Dizziness
*Tinnitus
 
== Medical Management (current best evidence) ==
 
Medical Management of Paget's disease depends on the symptoms the patient is experiencing. Pain that arises due to elevated SAP (Serum Alkaline Phosphatase)&nbsp;levels responds well to osteoclast inhibitor medications, while pain that arises from nerve irritation (due to bone deformity) should be treated with NSAIDS or analgesics. Many patients have seen good results from combining analgesics and physical therapy, electrical nerve stimulation, hydrotherapy, and acupuncture. <ref name="Goodman Fuller" /><ref name="Josse" />


&nbsp;'''First Line of Treatment'''
The [[Lumbar Spine Fracture|lumbar spine]], [[sacrum]], and skull are involved in most cases. Pain is a common feature and is worse with [[Weight bearing|weight-bearing]].  Incomplete fractures are common in Paget disease and seen in the tibia and femur. Even mild injuries can result in [[Insufficiency Fracture|fractures.]] [[Femoral Neck Fractures|Femur fractures]] often involve the subtrochanteric region.<ref name=":0" />


Due to abnormal osteoclast activity, inhibition of bone resorption&nbsp;with bisphosphonates is the gold standard and first treatment initiated to decrease osteoclastic activity, improve bone density, and increase the strength of the bone itself. Bisphosphonates many times provide long-lasting remissions and treatment response is monitored through assessing the reduction of biomechanical markers such as the SAP levels.
== Diagnosis ==


'''Second Line of Treatment'''
Tests to assist in the diagnosis of Paget disease include:


== Physical Therapy Management (current best evidence)  ==
* Bone scan
* Bone x-ray
* Elevated markers of bone breakdown like N-telopeptide


add text here
This disease also may also present with the following findings:


== Alternative/Holistic Management (current best evidence) ==
* Elevated ALP (alkaline phosphatase)  
* Normal Serum calcium and Phosphate&nbsp;


add text here
Hyperuricemia is common and is due to a high turnover of bone.


== Differential Diagnosis  ==
Secondary hyperparathyroidism occurs in about 10% of patients due to inadequate calcium in the face of increased demand.


&nbsp;After obtaining a&nbsp;clinical history&nbsp;and several radiographs and laboratory&nbsp;tests the differential diagnosis can narrowed down to a select few including:
Plain x-rays may reveal arthritis or fractures of gross bony lesions.


*Bone Metastases
Bone scans can help document the extent of disease and should be used to follow treatment. In addition, a bone scan can pick up early changes in bone even before the patient develops symptoms.<ref name="Goodman and Fuller" />&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;
*Fibrous Dysplasia
== Management ==
*Blastic Metastases
*Myelofibrosis
*Renal Osteodystrophy
*Fluorosis
*Mastocytosis
*Tuberous Sclerosis
*Calvarial Hyperostosis


== Case Reports  ==
Although there’s no cure for Paget’s disease of bone, there are treatments available to help people live well and manage the symptoms.


[http://www.ejbjs.org/cgi/reprint/58/7/994 http://www.ejbjs.org/cgi/reprint/58/7/994]
Medications


add links to case studies here (case studies should be added on new pages using the [[Template:Case Study|case study template]])<br>
* Bisphosphonates are used to slow the progression of Paget’s disease. They help the body control the bone-building process to stimulate more normal bone growth.
* Pain relievers (analgesics) and non-steroidal anti-inflammatory drugs (NSAIDs) – are used to provide temporary pain relief.
* Calcium and vitamin D – are both important for bone health. You can get calcium through the diet and vitamin D through safe exposure to sunlight.


[http://www.ejbjs.org/cgi/reprint/58/7/994 ]
Surgery is only offered as an option to patients diagnosed with Paget disease when there is a progression into osteosarcoma. <ref name=":0" />


== Resources  ==
There is no specific diet for patients with Paget disease, however those who are prescribed bisphosphonates should ensure adequate intake of calcium and vitamin D.<ref name="Schneider" />


&nbsp;add appropriate resources here
== Physical Therapy Management ==
[[File:Walking dog.jpg|thumb|Walking, a safe exercise.]]
Treatment Options Include:


== Recent Related Research (from [http://www.ncbi.nlm.nih.gov/pubmed/ Pubmed]) ==
* Encourage Client to Stay active – exercise helps to maintain bone health and joint mobility, as well as strengthen muscles. <ref name="Goodman and Fuller" />Aggressive physical activity is not recommended, as the risk of fracture is high. Certain forms of exercise are not suitable for people with Paget’s disease. eg avoid activities such as jogging, running, jumping, and aggressive forward bending and twisting exercises, if the spine is affected by Paget's disease <ref name="Goodman and Fuller" /><ref name="Schneider" />
* Provide a tailored exercises plan, and also provide techniques and/or devices that can help to improve movement, reduce pain and make everyday activities easier. eg a walking stick to reduce the weight placed through affected bones, braces to correct position, foot orthotics to support and correct abnormal foot position or motion.
* Educate on a healthy well-balanced diet – this can help client reach and maintain a healthy weight and reduce your risk of other health problems. Make sure they include calcium-rich foods.
* Teach new ways to manage pain. eg heat packs can help ease muscle pain, cold packs can help with inflammation, gentle exercise can help relieve muscle tension, transcutaneous electrical nerve stimulation (TENS), and massage . Try different techniques until client finds the things that work best for them<ref name="Chow">Chow, David. Emedicine. Med Web:Paget Disease. http://emedicine.medscape.com/article/311688-overview. Updated December 18,2008. Accessed April 2, 2010.</ref>.
* Encourage client to stay at work, it’s good for health and wellbeing. Discuss ways to help client get back to or stay at work<ref>MSK Pagets Disease Available:https://msk.org.au/pagets-disease/ (accessed 13.5.2022)</ref>
* A physical therapist can also assist a patient with Paget's disease in home modifications to make the patient safer with mobility around the home<ref name="Chow" /><br>


see tutorial on [[Adding PubMed Feed|Adding PubMed Feed]]
== References ==
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</div>
== References ==


<references />
<references />  
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Latest revision as of 06:04, 26 March 2023

Original Editors - Kevin Schoenfeld from Bellarmine University's Pathophysiology of Complex Patient Problems project.

Top Contributors - Kevin Schoenfeld, Admin, Lucinda hampton, Nikhil Benhur Abburi, Elaine Lonnemann, Dave Pariser, Priya Gulla, Kim Jackson, WikiSysop, Uchechukwu Chukwuemeka, Claire Knott, Aminat Abolade, Rachael Lowe, Wendy Walker and Mariam Hashem  

Introduction[edit | edit source]

Pagets Disease.jpeg

Paget's disease of the bone is a metabolic bone disease caused by increased bone resorption followed by excessive unrestricted bone formation, due to activated osteoclasts. The normal bone marrow is replaced by increased and unorganized collagen and fibrous tissue, which lacks the structural stability of normal bone. This increased bone mass formation leads to complications eg fractures, arthritis, deformities, pain, and to a patient's weakened condition. Paget's disease is the second most common metabolic bone disease to osteoporosis [1][2][3]

The prognosis for patients who are treated is good, especially if the disease is in its early stages. There is no cure for Paget disease but the disorder can be controlled from progressing.[4]

Etiology[edit | edit source]

The exact cause of Paget's disease is unknown, though it is thought to be a slow, viral bone infection (the family of paramyxoviruses) due to risk factors that include a gene-environment interaction. [1][2][5] Some research suggests that the osteoclastic abnormalities are due to a cytokine is known as IL-6, found solely in the bone marrow of Paget's disease populations.[4] The prevalence and causes of Paget's disease has been associated with genetic and geographical factors. A positive family history is reported in as many as 40% of patients with Paget's disease [1][2][5][6]. Paget's disease is mostly seen in an autosomal dominant distribution, and there have been three identifiable chromosomal regions associated with Paget's disease. [1] Geographically, populations in European, British, and Australian origin, and a migratory influence also play an important role especially in countries which of the early population migrated from Britain (United States, Australia, New Zealand, Canada).[1]     

Epidemiology[edit | edit source]

Paget disease is usually seen in individuals older than 50 years. It is common in Caucasians of northern European descent. Paget disease is equally common in males and females. In the US, it affects 1-3 million people with most being asymptomatic. The disorder is slightly more common in white males. The disorder usually presents in the 4-5 decade of life but the diagnosis is often made a decade later[4].

Characteristics/Clinical Presentation[edit | edit source]

This file is licensed under the Creative Commons Attribution-Share Alike 4.0 International license.
Paget's R Hip Bone

A patient with Paget's disease will often present as asymptomatic. However, the clinical presentation of a symptomatic patient varies greatly, due to the different levels of severity of this condition. The spine and pelvis are commonly affected and among the long bones, the femur is often involved. Symptomatic patients can present with the following:

The lumbar spine, sacrum, and skull are involved in most cases. Pain is a common feature and is worse with weight-bearing. Incomplete fractures are common in Paget disease and seen in the tibia and femur. Even mild injuries can result in fractures. Femur fractures often involve the subtrochanteric region.[4]

Diagnosis[edit | edit source]

Tests to assist in the diagnosis of Paget disease include:

  • Bone scan
  • Bone x-ray
  • Elevated markers of bone breakdown like N-telopeptide

This disease also may also present with the following findings:

  • Elevated ALP (alkaline phosphatase)
  • Normal Serum calcium and Phosphate 

Hyperuricemia is common and is due to a high turnover of bone.

Secondary hyperparathyroidism occurs in about 10% of patients due to inadequate calcium in the face of increased demand.

Plain x-rays may reveal arthritis or fractures of gross bony lesions.

Bone scans can help document the extent of disease and should be used to follow treatment. In addition, a bone scan can pick up early changes in bone even before the patient develops symptoms.[1]                                         

Management[edit | edit source]

Although there’s no cure for Paget’s disease of bone, there are treatments available to help people live well and manage the symptoms.

Medications

  • Bisphosphonates are used to slow the progression of Paget’s disease. They help the body control the bone-building process to stimulate more normal bone growth.
  • Pain relievers (analgesics) and non-steroidal anti-inflammatory drugs (NSAIDs) – are used to provide temporary pain relief.
  • Calcium and vitamin D – are both important for bone health. You can get calcium through the diet and vitamin D through safe exposure to sunlight.

Surgery is only offered as an option to patients diagnosed with Paget disease when there is a progression into osteosarcoma. [4]

There is no specific diet for patients with Paget disease, however those who are prescribed bisphosphonates should ensure adequate intake of calcium and vitamin D.[6]

Physical Therapy Management[edit | edit source]

Walking, a safe exercise.

Treatment Options Include:

  • Encourage Client to Stay active – exercise helps to maintain bone health and joint mobility, as well as strengthen muscles. [1]Aggressive physical activity is not recommended, as the risk of fracture is high. Certain forms of exercise are not suitable for people with Paget’s disease. eg avoid activities such as jogging, running, jumping, and aggressive forward bending and twisting exercises, if the spine is affected by Paget's disease [1][6]
  • Provide a tailored exercises plan, and also provide techniques and/or devices that can help to improve movement, reduce pain and make everyday activities easier. eg a walking stick to reduce the weight placed through affected bones, braces to correct position, foot orthotics to support and correct abnormal foot position or motion.
  • Educate on a healthy well-balanced diet – this can help client reach and maintain a healthy weight and reduce your risk of other health problems. Make sure they include calcium-rich foods.
  • Teach new ways to manage pain. eg heat packs can help ease muscle pain, cold packs can help with inflammation, gentle exercise can help relieve muscle tension, transcutaneous electrical nerve stimulation (TENS), and massage . Try different techniques until client finds the things that work best for them[7].
  • Encourage client to stay at work, it’s good for health and wellbeing. Discuss ways to help client get back to or stay at work[8]
  • A physical therapist can also assist a patient with Paget's disease in home modifications to make the patient safer with mobility around the home[7]

References[edit | edit source]

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 Goodman C, Fuller K. Pathology: Implications for the Physical Therapist. 3rd ed. St. Louis, Missouri: Saunders Elsevier;2009.
  2. ↑ 2.0 2.1 2.2 Josse RG, Hanley DA, Kendler D, Marie LG, Adachi JD, Brown J. Diagnosis and treatment of Paget’s disease of bone. Clinical and Investigative Medicine. 2007 Oct 1:E210-23.
  3. ↑ Seitz S, Priemel M, von Domarus C, Beil FT, Barvencik F, Amling M, Rueger JM. The second most common bone disease: a review on Paget’s disease of bone. European Journal of Trauma and Emergency Surgery. 2008 Dec 1;34(6):549-53.
  4. ↑ 4.0 4.1 4.2 4.3 4.4 Bouchette P, Boktor SW. Paget disease. InStatPearls [Internet] 2021 Jul 13. StatPearls Publishing. Available:https://www.ncbi.nlm.nih.gov/books/NBK430805/(accessed 13.5.2022)
  5. ↑ 5.0 5.1 Goodman C, Snyder T. Differential Diagnosis for Physical Therapists: Screening for Referral. 6th ed. St. Louis, Missouri: Saunders Elsevier, 2007.
  6. ↑ 6.0 6.1 6.2 Schneider D, Hofmann MT,Peterson JA. Diagnosis and Treatment of Paget’s Disease of Bone. American Family Physician. 2002; 65(10):2069-72
  7. ↑ 7.0 7.1 Chow, David. Emedicine. Med Web:Paget Disease. http://emedicine.medscape.com/article/311688-overview. Updated December 18,2008. Accessed April 2, 2010.
  8. ↑ MSK Pagets Disease Available:https://msk.org.au/pagets-disease/ (accessed 13.5.2022)
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