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Metabolic Bone Diseases — Beyond Osteoporosis

Osteomalacia, Paget's disease, and rare metabolic bone disorders.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Internal Medicine department. Book Appointment →

What is Metabolic Bone Diseases — Beyond Osteoporosis?

Metabolic bone diseases encompass various disorders affecting bone metabolism. Osteoporosis is the most common, but osteomalacia (mineralization defect due to vitamin D deficiency), Paget's disease (increased localized bone turnover), hypophosphatasia, and osteogenesis imperfecta also belong in this group.

Osteomalacia is impaired mineralization in adults and may be due to vitamin D deficiency, phosphate loss (renal tubular disorders), or drug-induced (bisphosphonates, aluminum). Bone pain, proximal muscle weakness, and pathological fractures are seen.

Paget's bone disease is characterized by localized excessive bone resorption and irregular bone formation. The skull, pelvis, femur, and tibia are the most commonly involved bones. ALP is markedly elevated.

Symptoms

Diffuse bone pain (in osteomalacia)
Proximal muscle weakness (inability to climb stairs, get up from a chair)
Pathological fractures (with minimal trauma)
Bone deformities (in Paget's disease — skull enlargement, tibial bowing)
Hearing loss (Paget's — with temporal bone involvement)

Risk Factors

Vitamin D deficiency (insufficient sunlight, malabsorption)
Chronic kidney disease (renal osteodystrophy)
Malabsorption syndromes (celiac, short bowel)
Family history (Paget's disease, osteogenesis imperfecta)
Drugs (antiepileptics, long-term glucocorticoids)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • If diffuse bone pain + muscle weakness + vitamin D deficiency are detected
  • If isolated elevated ALP is found (suspicion of Paget's)
  • If recurrent fractures occur with minimal trauma
  • If bone deformity is noticed (head enlargement, leg bowing)

Treatment Methods

01
Osteomalacia: High-dose vitamin D replacement + calcium
02
Paget's disease: Zoledronic acid (single IV dose — long-term remission)
03
Hypophosphatasia: Asfotase alfa (enzyme replacement therapy)
04
X-linked hypophosphatemia: Burosumab (anti-FGF23 monoclonal antibody)
05
Osteogenesis imperfecta: Bisphosphonates + fracture prevention + rehabilitation

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.