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Osteitis deformans
OVERVIEW: Inflammatory focal or generalized condition of the skeleton characterized by rapid, chaotic bone resorption followed by equally chaotic and excessive bone formation. Leads to enlarged but weakened and highly vascularized bone which is painful, easily deformed and subject to fractures with minimal trauma. Cranial and vertebral involvement can also cause neurologic deficits.
System(s) affected: Musculoskeletal
Genetics: 15-50% of patients have one or more involved first order relatives with osteitis deformans. Recent data suggest an 18q locus is involved, but other chromosomal sites may also confer susceptibility.
Incidence/Prevalence in USA: 3% of Caucasian individuals above age 50 have at least one focus. Rare in African Americans and Asians.
Predominant age: Above age 50, occasional cases ages 20-50
Predominant sex: Male = Female
SIGNS AND SYMPTOMS: • Frequently asymptomatic
• Bone pain
• Skeletal deformities
• Bowing of extremities
• Acetabular protrusion
• Headaches
• Head enlargement
• Fractures
• Secondary osteoarthritis
• Vertebral compression
• Neurologic deficits
• Osteoporosis circumscripta
• High output congestive heart failure (rare)
• Hypercalcemia (rare)
• Renal calculi (calcium, uric acid)
• Peyronie's syndrome
• Angioid streaks (rare)
• Mottled retinal degeneration (rare)
• Increased skin temperature over affected areas
• Bone sarcomas (rare)
• Peripheral neuropathies
• Carpal/tarsal tunnel syndromes
• Valvular/endocardial calcification
• Accelerated atherosclerosis
• Gouty diathesis
• Hyperparathyroidism
• Sensorineural hearing loss
• Conductive hearing loss
CAUSES: Unknown; best evidence to date is for slow virus infection in genetically susceptible individuals
RISK FACTORS: None known
DIAGNOSIS DIFFERENTIAL DIAGNOSIS: • Polyostotic fibrous dysplasia
• Osteitis fibrosis cystica (skeletal hyperparathyroidism)
• Primary bone neoplasms
• Osteolytic, osteoblastic metastases
LABORATORY: • Serum calcium - usually normal, rarely increased
• Serum alkaline phosphatase (total or bone specific) - usually increased
• Serum GGT - normal
• Serum osteocalcin (BGP) - usually increased
• Urinary pyridinoline collagen crosslinks - usually increased
• N- and C-telopeptide (collagen crosslinks) - usually increased in serum and urine
Drugs that may alter lab results:
• Vitamin D and its metabolites
• Hepatotoxic drugs
Disorders that may alter lab results:
• See Differential diagnosis
• Osteomalacia
• Liver disorders
• Traumatic fractures
PATHOLOGICAL FINDINGS: • Chaotic bone resorption at advancing edge of disease. Osteoclasts are large, contain 10-100 nuclei and have abnormal configuration.
• Electrophotomicroscopically, the nuclei and cytoplasm contain myriad of inclusion bodies resembling viral nucleocapsids
• Later, excessive osteoblastic bone formation predominates with sclerotic bone containing cement lines forming mosaic pattern
SPECIAL TESTS: • Neurologic examination
• Audiogram, if skull involvement
• Visual field study, if skull involvement
IMAGING: • X-rays show irregular pattern of alternating bone formation and resorption in enlarged deformed bones. Resorptive fronts at advancing edge.
• Bone scans show intense uptake in focal pattern
• CT/MRI show extra-bony extension if sarcomatous degeneration occurs
DIAGNOSTIC PROCEDURES: Bone biopsy needed only in confusing cases (rare)
TREATMENT APPROPRIATE HEALTH CARE: Outpatient, except when intravenous treatment is used
GENERAL MEASURES: • Rarely, splints for severely resorbed areas with high risk of fracture
• Hearing aids for severe deafness; of some (but not great) value in sensorineural deafness
SURGICAL MEASURES: • Joint replacement (hip, knee) sometimes needed
• Osteotomy procedures for extreme deformity
• Decompression procedures (skull, spinal column) for acute neurologic deficits (rarely needed)
• Bone biopsy (rarely needed)
• Extirpative surgery for sarcomatous complications
• Open reduction of fractures
ACTIVITY: • Full activity to maintain function
• Avoid excessive mechanical stress on involved bones
DIET: No special diet
PATIENT EDUCATION: Paget Foundation, 120 Wall St., Suite 1602, New York, NY 10005 (212)509-5335; fax (212)509-8492; E-mail: pagetfdn@aol.com
MEDICATIONS DRUG(S) OF CHOICE: • Synthetic injectable salmon calcitonin (Miacalcin): 50 IU three times weekly to 100 IU qd, courses 1.5 to 3 years
or
• Etidronate (Didronel), 5 mg/kg/day (approximately 400 mg) x 6 mos (taken on an empty stomach). Rarely, 20 mg/kg/day x 1 month. Courses may be repeated after a 3-6 month rest period
or
• Alendronate (Fosamax) 40 mg/day (taken on an empty stomach) for 6 mos
or
• Tiludronate (Skelid) 400 mg/day (taken on an empty stomach) for 3 months
or
• Risedronate (Actonel) 30 mg/day (taken on an empty stomach) for 2 months
or
• Pamidronate (Aredia) 60 mg/day by 4-6 hour infusions for 2-3 days. Alternately, 30 mg/day by 4-6 hour infusions once a week for 6 weeks. May be repeated several months later if effect wears off.
or
• Plicamycin (Mithracin), 25 mcg/kg/day or qod by 4-6 hr infusions x 9-10 infusions
• Add nonsteroidal anti-inflammatories (NSAIDs) to above drugs for secondary osteoarthritis. COX-2 inhibitors may be substituted.
Contraindications:
• Prior history of allergy or hypersensitivity
• For alendronate, tiludronate, and risedronate, esophageal dysfunction, severe upper GI symptoms, GERD, etc.
• For plicamycin, manifest hepatic or renal impairment or bone marrow depression
Precautions:
• Adverse side effects may require ameliorative measures or temporary dose reduction
• Salmon calcitonin - nausea, vomiting, anorexia, flushing, rash, including urticaria (rare)
• Etidronate disodium - nausea, vomiting, diarrhea, increased bone pain
• Alendronate, tiludronate and risedronate - heartburn, epigastric pain, musculoskeletal pain. Take on an empty stomach with copious water. No food, beverages or other medications for 30-60 minutes. Remain upright for 1 hour.
• Pamidronate disodium - transient fever, leukopenia, hypocalcemia, headache, malaise, loss of appetite
• Plicamycin - vomiting, anorexia, malaise, abnormal liver/renal function, thrombocytopenia with bleeding
Significant possible interactions: None
ALTERNATIVE DRUGS: NSAIDs or COX-2 inhibitors for mildly symptomatic disease in nonstrategic areas
FOLLOW UP PATIENT MONITORING: • Followup visits every 2-4 months during drug therapy; yearly if drugs not being used. Alkaline phosphatase (total or bone specific) before each visit.
• Repeat x-rays and bone scan every 3-5 years or as needed
PREVENTION/AVOIDANCE: Avoid excessive mechanical stress on afflicted bones to reduce chance of fractures and other complications
POSSIBLE COMPLICATIONS: Fractures, severe deformities, head enlargement, acetabular protrusion, carpal/tarsal tunnel syndromes, neurologic deficits, deafness, visual impairment, congestive heart failure (high output), renal calculi, Peyronie's syndrome, sarcomatous degeneration
EXPECTED COURSE AND PROGNOSIS: • Depends on severity, often asymptomatic
• Slow progression if untreated
• Significant amelioration with treatment (85% or greater)
• Poor prognosis if bone sarcoma develops
MISCELLANEOUS ASSOCIATED CONDITIONS: • Hyperparathyroidism
• Gouty diathesis
• Secondary osteoarthritis
• Angioid streaks
• Mottled retinal degeneration
• Bone sarcoma (rare)
• Peyronie's disease
AGE-RELATED FACTORS:
Pediatric: N/A
Geriatric: Common
Others: More prevalent if ancestry Caucasian, especially United Kingdom, Northern Europe (excluding Scandinavia), Italy, Australia and New Zealand. Rare in African Americans and Asians.
PREGNANCY: N/A
SYNONYMS: Paget's disease of bone
ICD-9-CM: 731.0 Osteitis deformans without mention of bone tumor
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Renal failure, acute (ARF)
Renal failure, chronic
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Diabetes mellitus,
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