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Laboratory evaluation of bone disease

Last updated: November 24, 2020

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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.

Overview of the laboratory measures of the most common bone diseases [1][2]
Serum calcium Serum phosphate Parathormone (PTH) Additional diagnostic tests
Osteoporosis
  • Normal
  • Normal
  • Normal
Osteomalacia and rickets
Paget disease
  • Normal
  • Normal
  • Normal
Osteopetrosis
  • Normal/↓ (in severe foms)
  • Normal
  • Normal

Primary hyperparathyroidism

Secondary hyperparathyroidism

  • Normal/

Tertiary hyperparathyroidism

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

Hypervitaminosis D

  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.