Paget's Disease- Skowronska Flashcards
Elevation of what serum marker is associated with (although non-specific for) Paget’s disease?
Alkaline Phosphatase
Describe Paget’s Disease
- Disorder of bone remodeling
- Accelerated bone turnover due to abnormal Osteoclasts
- Osteoblastic bone formation follows the break down.
-Disorganized, weak, thick, and HYPERVASCULAR bone is produced.
Note: Hypervascularity of the new bone is related to one of the associated conditions of Paget’s disease.
Name the 3 stages seen in Paget’s disease
- Lytic
- Mixed (osteoclastic activity with predominantly osteoblastic activity)
- Sclerotic (Burn out quiescent Osteosclerotic phase)
Describe the Epidemiology of Paget’s disease
- “Disease of the Elderly”
- Prevalence increases with age
- M > F
- Caucasians (England has the highest percentage)
Describe the Genetics of Paget’s Disease
- Mutation in SQSTM1 gene coding for p62 protein
- p62 involved with RANKL expression
- Increased Osteoclast formation
- Viral formation
Name the most common skeletal sites involved with Paget’s pathology
- Pelvis (75% of the time)
- Vertebrae (Lumbar and Thoracic)
- Proximal Femur
- Skull
Describe the Skull involvement of Paget’s disease
- Often affects the frontal and/or occipital regions
- Enlargement of skull with frontal bossing
- Enlargement of maxilla
- Facial bone involvement –> Leonine appearance
-Deafness can occur due to involvement of temporal bones/ossicles; leading to narrowing of auditory canal.
Describe some key Clinical features of Paget’s disease
- Only 1/3 of people symptomatic
- Bone pain
- Skeletal deformities
- Fractures
- Peripheral Nerve compression
- High output Heart failure
Mnemonic: BF SHOP
Bone pain Fractures Skeletal Deformities Heart failure Only 1/3 asymptomatic Peripheral nerve compression
What bone malignancy is associated with Paget’s?
Osteosarcoma
Name the Nervous system conditions seen in Paget’s
- Due to Vertebral involvement:
- Spinal cord lesions
- Nerve compression
- Cauda Equina Syndrome - Nervous system disorders due to compression of brain stem.
- Hearing Loss
- Blindness
Describe the diagnosis of Paget’s disease
- Radiographs showing osteoblastic, osteoclastic, and mixed lesions.
- Radiograph of Skull showing “Osteoporosis Circumscripta”
- Bone Scan
Note: Osteoporosis Circumscripta describes a Well defined (or circumscribed) lytic lesion in the skull on radiograph.
List the lab findings in Paget’s
- Elevated Alkaline Phosphatase (correlates with disease activity)
- Elevated urinary Hydroxyproline
- Elevated Uric acid and Citrate
- Elevated urinary N-telopeptide
- Normal Serum Calcium!
- Normal Serum Phosphorus!
List the common Vertebral findings on Radiograph in Paget’s
- Picture frame Vertebra (looks like bone within bone)
- Enlarged Vertebral body with Lucent center
- Ivory Vertebra (blastic vertebra with increased density)
Describe the pelvic findings in Paget’s
- Thickened Trabeculae
- Large lytic lesion in central portion of ileum.
- Acetabular protrusion
What are the indications for treatment in Paget’s Disease?
- Pain where disease is manifesting
- Hypercalcemia due to immobilization
- Fractures
- Skull involvement with associated Neurological symptoms
- High output Heart failure (rare)
- Periarticular Disease
