Clinical manifestations, diagnosis, and treatment of osteomalacia
- Adi Cohen, MD, MHS
Adi Cohen, MD, MHS
- Associate Professor of Medicine
- Columbia University Medical Center
- Matthew T Drake, MD, PhD
Matthew T Drake, MD, PhD
- Associate Professor of Medicine
- Mayo Clinic
Osteomalacia is a disorder of bone, characterized by decreased mineralization of newly formed osteoid at sites of bone turnover. Several different disorders cause osteomalacia via mechanisms that result in hypocalcemia, hypophosphatemia, or direct inhibition of the mineralization process. (See "Epidemiology and etiology of osteomalacia".)
This topic review will present an overview of the clinical manifestations, diagnosis, and treatment of adults with osteomalacia. The treatment of nutritional, hereditary vitamin D resistant, and pseudovitamin D-deficient rickets in children is discussed separately. (See "Etiology and treatment of calcipenic rickets in children" and "Hereditary hypophosphatemic rickets and tumor-induced osteomalacia".)
Clinical manifestations — Osteomalacia may be asymptomatic and present radiologically as osteopenia. It can also produce characteristic symptoms, independently of the underlying cause, including diffuse bone and joint pain, muscle weakness, and difficulty walking [1-3]. In a report of 17 patients with osteomalacia on bone biopsy, the following findings were observed :
●Bone pain and muscle weakness in 16 (94 percent)
●Bone tenderness in 15 (88 percent)
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- CLINICAL FEATURES
- Clinical manifestations
- Laboratory findings
- Radiographic findings
- - Changes in vertebral bodies
- - Looser zones
- - Secondary hyperparathyroidism
- - Other radiograph findings
- Bone mineral density
- DIAGNOSIS AND EVALUATION
- Interpretation of laboratory abnormalities
- Bone biopsy
- DIFFERENTIAL DIAGNOSIS
- Vitamin D deficiency
- Other causes
- SUMMARY AND RECOMMENDATIONS