This document summarizes information about Paget's disease of bone, including its description, causes, symptoms, diagnosis, treatment, and complications. It presents two clinical cases involving patients with Paget's disease - one with a non-union femur fracture requiring surgical fixation, and another managed conservatively with bisphosphonates who developed severe deformities over time. Paget's disease results in abnormal bone remodeling leading to weakened, deformed bones and is characterized by periods of bone destruction and formation. It can cause pain, fractures, neurological issues, and other structural complications if left untreated.

1. Nonunion fracture shaft femur
in
Paget disease of Bone
Vinod Naneria
Girish Yeotikar
Arjun Wadhwani
Choithram Hospital & Research Centre, Indore, India

2. James Paget
• James Paget (1814 –
1899) trained at St
Bartholomew’s and later
became a leading
surgeon. He is famous
for his description of
Paget’s Disease of Bone
and Paget’s Disease of
the Nipple.

3. Paget’s disease of bone
• The English surgeon Sir James Paget first
described chronic inflammation of bone as
osteitis deformans in 1877.
• Paget's disease of bone is a chronic disease of the
skeleton.
• It is a common disease in older people, occurring
in about 3 percent to 4 percent of the population
over age 50 years.
• It is slightly more common in men than women.

4. Paget’s disease of bone
• Appear in families.
• 25 % to 40 % of the relatives of someone with the
disease.
• Common in people of Anglo-Saxon descent and
those who live in certain geographic areas, such
as England, the United States, Australia, New
Zealand, and Western Europe.
• Paget disease is estimated to affect 1 to 3 million
people in the United States.
• It is not common in Scandinavia, China, Japan, or
India.

5. Eatiology
• About 40-50% of people with the inherited
version of Paget's disease have a mutation in
the gene SQSTM1, which encodes a protein
involved in regulating osteoclast functioning,
called p62.
• About 10-15 % of people that develop the
disease without any family history also have a
mutation in the SQSTM1 gene.

6. Paget’s disease of bone
• Paget's disease can affect any bone in the
skeleton.
• It appears most often in the spine, pelvis, long
bones of the limbs, and skull.
• It can be present in just one bone or in several
bones.
• It can affect the entire bone or just part of it.
• Three phases of Paget disease have been
described: lytic, mixed lytic + blastic, and
sclerotic.

7. Patho-physiology – Phase one
• Begins with the lytic phase, in which normal
bone is resorbed by osteoclasts that are more
numerous, are larger, and have many more
nuclei (up to 100) than normal osteoclasts (5-
10 nuclei). Bone turnover rates increase to as
much as 20 times of normal.

8. Patho-physeology –The second phase
• In mixed phase, there is rapid increases in bone
formation from numerous osteoblasts. Although
increased in number, the osteoblasts remain
morphologically normal.
• The newly made bone is abnormal, however, with
collagen fibers deposited in a haphazard fashion
rather than linearly, as with normal bone
formation.
• As the osteoclastic and osteoblastic activities of
bone destruction and formation repeat, a high
degree of bone turnover occurs.

9. Patho-physiology – Final phase
• In the final phase of Paget disease, the
sclerotic phase, bone formation dominates
and the bone that is formed has a
disorganized pattern (woven bone) and is
weaker than normal adult bone.
• This woven bone pattern allows the bone
marrow to be infiltrated by excessive fibrous
connective tissue and blood vessels, leading to
a hypervascular bone state.

10. Diagnosis
• Pagetic bone has a characteristic appearance on X-
rays.
• ↑level of alkaline phosphatase in the blood.
• Normal calcium, phosphate, & aminotransferase.
• ↑- Markers of bone turnover in urine eg. Deo-
pyridinoline
• ↑ - Levels of serum & urinary hydroxyproline.
• Bone scans are useful for extent and activity of the
condition.

11. Medical Management
• Bisphosphonates are required to reduce the
osteoclastic activity.
• Calcium + Vitamin D + sun shine and Exercies.
• The osteoclastic/osteoblastic activity can be
monitored by regular check up of serum/urinary
calcium, bone specific alkaline phosphatases.
• Needs management of cardiac problems due to
hyper dynamic circulation.
• Watch for Osteogenic sarcomas.

12. Early Treatment
• Because early diagnosis and treatment is
important, after age 40, siblings and children
of someone with Paget's disease may wish to
have an alkaline phosphatase blood test every
two or three years.
• If the alkaline phosphatase level is above
normal, other tests such as a bone-specific
alkaline phosphatase test, bone scan, or X-
ray can be performed.

13. Paget disease of bone
• However, because Paget's disease increases
the blood supply to bones, the physician may
recommend taking Bisphosphonates before
the surgery to reduce potential blood loss.
• Bones affected by Paget's disease may take
longer to heal than normal bones. Longer
rehabilitation than usual may be necessary.

14. Complications
• Complications of Paget disease include the
following:
• Fractures (abnormal bone)
• Osteogenic Sarcoma
• Neuromuscular syndromes (compression)
• Joint disease (degenerative)
• Cardiovascular abnormalities (hyper-dynamic
circulation)

15. Case one – Non union femur
• 73 Male, Sub Saharan African.
• Fracture shaft femur 3 months ago.
• He was diagnosed as “Paget’s disease” of
bone.
• He is Diabetic + Hypertensive + CRF
• Serum calcium 13mg/% ↑
• Alkaline Phosphatase 400 iu/l ↑
• Serum Creatinine 2.5mg/% ↑

16. Clinically
• Average build,
• Tall,
• Movements at knee limited,
• Movements at hip limited,
• Frank mobility at fracture site.
• No obvious neuro-vascular deficit.
• Skeletal survey – left hip, pelvis, lumbar spine.

21. Surgical procedure
• Lateral position.
• Lateral approach.
• Fracture site exposed.
• Interposition of muscle tissue removed.
• Bone ends were freshened.
• No periosteum was found.

22. Cancellization of cortex of bone ends
Bone holding clamp
Bristow elevator
End of the proximal fragment

23. Zoom view of bone end

24. Surgical procedure
• The was no clearly visible cortical bone
• It was all cancellous bone with honey combing
appearance.
• Retrograde 8mm reamer passed.
• Fracture reduced by traction.
• A 12mm Synthes IL Nail gently threaded over
the wire.
• Nail was locked by two screws above & below.

26. Problems:- at surgery
• Continuous oozing,
• Tight soft tissue,
• Stiff knee,
• Limited motion at hip,
• Not perfect anatomical reduction,
• Very soft bones.

27. Follow up
• Since patient was from West Africa, he was
send home after removal of stitches on
Bisphosphonate.
• At the time of discharge, he was painfree.
• Hip movements were limited
• Knee movements improved from 0 – 110
degree
• He had UTI which was managed and urine was
clear at the time of discharge.

28. Case 2 - conservative
• First seen in the month of May, 2000.
• A 65 years old healthy male complained of:
• Polyarticular joints pain.
• More localized to right hip, knee and lower
back.
• Severe morning stiffness.
• Clinically had stiff spine, limitations of
movements at right hip and knee.

29. Case 2 cont……
• Serum chemistry was essentially normal
except very high Alkaline Phosphatase 860 iu/l
where normal range is 20 – 100 iu/l.
• PSA, PTH, Protein Electrophoresis was normal.
• X-ray pelvis: showed generalized
osteosclerosis, more in the right hip area.
• X-ray knee: showed sclerotic lesion of
proximal tibia extending up to upper 6” of it.

30. Case 2 cont……
• He was diagnosed as a case of Paget’s disease of bone
and was put on Bisphosphonate 10mg twice daily for a
month, followed by 10mg daily.
• The daily dosage were later shifted to 70mg weekly.
• He is still on the same dosage.
• In 2005 he had Cerebro - Vascular accident (CVA) due
to small leak in the brain, with hemiparesis.
• He completely recovered.
• He had loss of vision in one eye and other developed
Cataract, he got an Intra-Occular-Implant (IOL) surgery
done.

31. Marked thickening
of the Calvarium.
The Diploic space
is widened and
there are ill-
defined sclerotic
& lucent areas
throughout.
The cortex is
thickened and
irregular.
The findings
probably
correspond to the
“cotton wool
spots”

32. Jan 2001

33. Jan 2001 Jan 2001 Jan 2001

34. Sept. 2013

35. Sept. 2013

36. Sept. 2013

37. Sept. 2013

38. Sept. 2013

39. Sept. 2013

40. Sept. 2013

41. Sept. 2013

42. Sept. 2013

44. Case 2 cont……2013
• At present he is home bound and able to walk only
with support or wheel chair.
• He has no neurological deficit and have full bladder
and bowel control.
• There is severe bilateral flexion and varus deformity at
knee, with limited range of movements.
• Right hip is totally stiff and left have very limited
movements.
• Spine is stiff in forward stooping posture.
• Serum chemistry is essentially normal.

45. DISCLAIMER
Information contained and transmitted by this presentation is
based on personal experience and collection of cases at
Choithram Hospital & Research centre, Indore, India, during
last 25 years. It is intended for use only by the students of
orthopaedic surgery. Views and opinion expressed in this
presentation are personal opinion. Depending upon the x-
rays and clinical presentations viewers can make their own
opinion. For any confusion please contact the sole author for
clarification. Every body is allowed to copy or download and
use the material best suited to him. I am not responsible for
any controversies arise out of this presentation. For any
correction or suggestion please contact naneria@yahoo.com