[Osteomalacia-Clinical aspects, diagnostics and treatment].

Area of Science:

• Bone Metabolism and Disease
• Endocrinology
• Rheumatology

Background:

• Osteomalacia is a skeletal disorder characterized by impaired bone mineralization.
• It encompasses Vitamin D-dependent and hypophosphatemic forms, presenting with bone pain, muscle weakness, and fragility fractures.
• Distinguishing osteomalacia from osteoporosis is crucial due to differing fracture patterns and diagnostic approaches.

Purpose of the Study:

• To highlight the distinct clinical features and fracture patterns of osteomalacia.
• To emphasize the importance of understanding osteomalacia pathophysiology for accurate diagnosis.
• To outline a rational approach for bone-specific examinations, including laboratory tests, imaging, and biopsy.

Main Methods:

• Review of typical signs, symptoms, and fracture patterns associated with osteomalacia.
• Comparison of fracture characteristics in osteomalacia versus osteoporosis.
• Discussion of diagnostic strategies involving pathophysiology knowledge, laboratory parameters, imaging, and bone biopsy.

Main Results:

• Osteomalacia presents with diffuse bone pain, muscle weakness, and fragility fractures, particularly in the pelvis, sacrum, foot, tibia, and ribs.
• These fracture sites differ from those typical in osteoporosis, such as the femoral neck and vertebrae.
• Unspecific clinical features can lead to delayed diagnosis, underscoring the need for specific investigations.

Conclusions:

• Accurate classification of osteomalacia requires understanding its pathophysiology and employing specific diagnostic tools.
• A systematic approach integrating laboratory, imaging, and biopsy findings is essential for definitive diagnosis.
• Early and correct diagnosis is vital for appropriate management of osteomalacia.