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Osteomalacia in Adults: A Practical Insight for Clinicians.

Luis Arboleya1, Ignacio Braña1, Estefanía Pardo1

  • 1Rheumatology Division, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain.

Journal of Clinical Medicine
|April 13, 2023
PubMed
Summary
This summary is machine-generated.

Osteomalacia (OM), a bone mineralization disorder, is often overlooked, leading to delayed diagnosis and incorrect osteoporosis treatment. Early recognition is crucial for effective management of this preventable condition.

Keywords:
FGF23osteomalaciaphosphatericketsvitamin D

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Area of Science:

  • Endocrinology
  • Metabolic Bone Disease
  • Rheumatology

Background:

  • Osteomalacia (OM) is a skeletal disorder caused by impaired bone mineralization, stemming from various mineral metabolism disorders.
  • It can be genetic (e.g., X-linked hypophosphatemia) or acquired, with nutritional deficiencies being epidemiologically significant and preventable.
  • Subtle initial symptoms and overlapping radiological features with other bone diseases like osteoporosis and axial spondyloarthritis contribute to diagnostic delays.

Purpose of the Study:

  • To highlight the diagnostic challenges and clinical implications of osteomalacia in adults.
  • To emphasize the importance of considering osteomalacia in adult skeletal disease diagnosis and treatment.
  • To provide practical considerations for clinicians to improve osteomalacia diagnosis and management.

Main Methods:

  • Review of existing literature on osteomalacia, X-linked hypophosphatemia, and related bone disorders.
  • Analysis of diagnostic pitfalls, including misdiagnosis with osteoporosis and axial spondyloarthritis.
  • Discussion of the epidemiological relevance and preventable nature of nutritional osteomalacia.

Main Results:

  • Osteomalacia prevalence is unknown but likely underestimated, contributing to treatment failures in other bone diseases.
  • Misdiagnosis can lead to inappropriate treatments, such as antiresorptives, with severe consequences for osteomalacic bone.
  • Delayed diagnosis is common due to subtle manifestations and confusion with other conditions.

Conclusions:

  • Accurate diagnosis of osteomalacia is critical to avoid therapeutic errors and improve patient outcomes.
  • Clinicians must maintain a high index of suspicion for osteomalacia in adult patients with bone diseases.
  • Further research is needed to establish the true prevalence and incidence of osteomalacia.