Eligibility Details:
Inclusion Criteria for Cases:
- Men and women between the ages of 18-99 years who have evidence of active Paget's
disease of bone as clinically and/or radiographically defined by:
- Increased serum alkaline phosphatase or increased serum collagen type 1
c-telopeptide (CTX) or increase in urinary pyridinoline at diagnosis
- AND history of at least one of the following signs/symptoms: Pagetoid lesions(s)
on x-ray/CT/MRI, increased uptake of radioactive substance by bone scan, bone
pain, fracture, hearing loss, headache, hypercalcemia, or bony deformity.
Inclusion criteria for controls:
- Men and women between the ages of 18-99 years who match age within 5 years of cases
and gender who do NOT have evidence of Paget's disease of bone as defined by:
- No bone pain or bony deformity
- Normal serum alkaline phosphatase
Exclusion Criteria:
- Osteosarcoma or other blastic bony metastases alone
- Fibrous dysplasia of bone
- Hyperostosis frontalis interna
- All men and women < 18 years or > 99 years
- Pregnancy (women) determined by self-report
- Current use of oral contraceptive tablets or Depo-Proveraâ„¢ (women)
- Current use of hormone replacement therapy
- Creatinine clearance < 60 ml/min./1.73 m2 by Cockcroft-Gault based on most recent
serum creatinine level (if greater than 1 year since last assessment, will be measured
on collected blood sample to verify eligibility)
- Current smoking or tobacco use
- Alcohol use greater than 3 units daily
- Use of thiazolidinediones within the last year
- Use of medications known to impact bone and mineral metabolism, including use of a
bisphosphonate in the last 11 months; ever use of teriparatide or denosumab; use of
calcitonin, selective estrogen receptor modulators (SERMs), or estrogen within the
past 6 months, prednisone > 5 mg for over 10 days in the last three months,
anti-epileptic medications (e.g. phenytoin, carbamezapine, phenobarbitol, and
primidone); current or use within the past year of aromatase inhibitors; leuprolide;
histrelin
- History of a thyroid problem that is currently uncontrolled as defined by most recent
thyroid stimulating hormone levels < 0.1 microIU/mL (if greater than 6 months since
last assessment, will be measured on collected blood sample to verify eligibility)
- Other known metabolic or structural bone disease other than low bone density (e.g.
hyperparathyroidism, multiple myeloma, sarcoid or other granulomatous disease, celiac
disease, osteopetrosis, osteomalacia, osteitis fibrosa cystica)
- Other significant medical illness (heart disease, pulmonary disease, inflammatory
bowel disease, malignancy other than ductal carcinoma in situ (DCIS) or non-melanoma
skin cancer, rheumatologic conditions including rheumatoid arthritis, systemic lupus,
renal disease requiring dialysis, etc.)
- Inability to understand and provide informed consent.