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AMBOSS Articles/ Internal Medicine > Endocrinology > Bone and Mineral Disorders

Laboratory Evaluation of Bone Disease

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.

Laboratory findings in common bone disorders [1][2]
Serum calcium Serum phosphate Parathormone (PTH) Additional diagnostic tests
Osteoporosis
  • Normal
  • Normal
  • Normal
  • T-score in DEXA
  • Elevated serum alkaline phosphatase after pathological fractures
Osteomalacia and rickets
  • Vitamin D
  • ↑ Serum alkaline phosphatase
Paget disease
  • Normal
  • Normal
  • Normal
  • ↑↑ Serum alkaline phosphatase
  • ↑ Urine hydroxyproline
  • Histology shows mosaic-like architecture of the bone.
Osteopetrosis
  • Normal/↓ (in severe foms)
  • Normal
  • Normal
  • Bones are dense and brittle.
  • Tartrate-resistant acid phosphatase (TRAP)
Primary hyperparathyroidism
  • ↑ Serum alkaline phosphatase
  • Hypercalciuria
  • Fibrous replacement of bone, thinning of subperiosteal bone
Secondary hyperparathyroidism
  • Normal/↑
  • ↑ Serum alkaline phosphatase
  • Often due to chronic kidney disease (renal osteodystrophy): creatinine, phosphate
Tertiary hyperparathyroidism
  • ↑ Serum alkaline phosphatase
Osteolytic metastasis
  • Normal/↓
  • Normal/↓
  • ↑ Serum alkaline phosphatase
Hypoparathyroidism
  • Magnesium
Pseudohypoparathyroidism
  • Caused by GNAS1 gene mutation
Hypervitaminosis D
  • Vitamin D
  • Can be caused by sarcoidosis or oversupplementation
  • Hypercalciuria