Laboratory evaluation of bone disease

Last updated: June 29, 2022

Summarytoggle arrow icon

Laboratory evaluation of serological and urinary markers is important in the diagnosis of suspected bone disease. An increase or decrease in calcium, phosphate, creatinine, or parathormone may provide important information for differential diagnosis. Elevated serum alkaline phosphatase, which originates from several tissues (e.g., liver and bone) indicates increased bone formation (e.g., after a pathological fracture, in bone metastasis, or Paget disease), once liver disease is ruled out. Elevated urinary hydroxyproline, a specific marker of collagen synthesis and breakdown, is a typical finding in patients with Paget disease.

Overviewtoggle arrow icon

Laboratory findings in common bone disorders [1][2]
Serum calcium Serum phosphate Parathormone (PTH) Additional diagnostic tests
  • Normal
  • Normal
  • Normal
Osteomalacia and rickets
Paget disease
  • Normal
  • Normal
  • Normal
  • Normal/↓ (in severe foms)
  • Normal
  • Normal

Primary hyperparathyroidism

Secondary hyperparathyroidism

  • Normal/

Tertiary hyperparathyroidism

Osteolytic metastasis
  • Normal/↓
  • Normal/↓
  • Caused by GNAS1 gene mutation

Hypervitaminosis D

Referencestoggle arrow icon

  1. Kasper DL, Fauci AS, Hauser SL, Longo DL, Lameson JL, Loscalzo J. Harrison's Principles of Internal Medicine. McGraw-Hill Education ; 2015
  2. Seibel MJ. Biochemical markers of bone turnover: part I: biochemistry and variability. Clin Biochem Rev. 2005; 26 (4): p.97-122.

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