Adult Hypophosphatemic Osteomalacia.

Area of Science:

• Endocrinology
• Rheumatology
• Radiology

Background:

• A 32-year-old Asian female presented with progressive back and hip pain and stiffness.
• Initial symptoms mimicked ankylosing spondylitis, leading to delayed diagnosis.
• Patient had diabetes but no history of rickets or renal disease.

Purpose of the Study:

• To highlight the diagnostic challenges in differentiating osteomalacia from inflammatory arthropathies.
• To emphasize the importance of biochemical testing in cases of unexplained bone pain and stiffness.

Main Methods:

• Clinical examination including assessment of stature and spinal/hip mobility.
• Imaging studies: MRI of the spine and hips, plain radiographs.
• Laboratory tests: Vitamin D levels, calcium, parathyroid hormone (PTH), and alkaline phosphatase.

Main Results:

• Physical examination revealed short stature, thoracic kyphosis, lumbar flattening, and fixed hip flexion deformities.
• Imaging showed findings suggestive of osteomalacia.
• Biochemical tests confirmed vitamin D deficiency, normocalcemia, elevated PTH, and elevated alkaline phosphatase.

Conclusions:

• The patient's presentation was ultimately attributed to severe vitamin D deficiency causing osteomalacia.
• This case underscores the need for a comprehensive diagnostic approach, including biochemical evaluation, for patients with chronic musculoskeletal pain and stiffness.
• Early identification and management of vitamin D deficiency are crucial to prevent skeletal deformities and improve patient outcomes.