Nonunion fracture shaft femurin

Paget disease of Bone

Vinod NaneriaGirish Yeotikar

Arjun WadhwaniChoithram Hospital & Research Centre, Indore, India

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Complications

• Complications of Paget disease include the following:

• Fractures (abnormal bone)• Osteogenic Sarcoma• Neuromuscular syndromes (compression)• Joint disease (degenerative)• Cardiovascular abnormalities (hyper-dynamic

circulation)

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/% ↑

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.

Surgical procedure

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

Cancellization of cortex of bone ends

Bone holding clamp

Bristow elevator

End of the proximal fragment

Zoom view of bone end

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.

Problems:- at surgery

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

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.

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.

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.

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.

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”

Jan 2001

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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.

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