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Skeletal deformities may be overlooked until fractures occur after minimal trauma. Symptoms include diffuse skeletal pain and bony tenderness and may be subtle. Proximal muscle weakness is a feature of vitamin D deficiency and may mimic primary muscle disorders. A decrease in bone density is usually associated with loss of trabeculae and thinning of the cortices. Characteristic x-ray findings are radiolucent bands (looser's zones or pseudofractures) ranging from a few millimeters to several centimeters in length, usually perpendicular to the surface of the femur, pelvis, and scapula. Changes in serum calcium, phosphorus, 25(OH)D, and 1,25(OH)2D levels vary depending on the cause. The most specific test for vitamin D deficiency in an otherwise healthy individual is a low serum 25(OH)D level. Even modest vitamin D deficiency leads to compensatory secondary hyperparathyroidism characterized by increased levels of PTH and alkaline phosphatase, hyperphosphaturia, and low serum phosphate. With advancing osteomalacia, hypocalcemia may develop due to impaired calcium mobilization from undermineralized bone. 1,25-Dihydroxyvitamin D levels may be preserved, reflecting upregulation of 1α-hydroxylase activity.

Treatment: Osteomalacia

In osteomalacia due to vitamin D deficiency (serum 25(OH)D <50 nmol/L [<20 ng/mL]), vitamin D2 (ergocalciferol) is given orally in doses of 50,000 IU weekly for 8 weeks, followed by maintenance therapy with 800 IU daily. Osteomalacia due to malabsorption requires larger doses of vitamin D (up to 50,000 IU/d orally or 250,000 IU IM biannually). In pts taking anticonvulsants or those with disorders of abnormal vitamin D activation, vitamin D should be administered in doses that maintain the serum calcium and 25(OH)D levels in the normal range. Calcitriol (0.25-0.5 µg/d PO) is effective in treating hypocalcemia or osteodystrophy caused by chronic renal failure. Vitamin D deficiency should always be repleted in conjunction with calcium supplementation (1.5-2.0 g of elemental calcium daily). Serum and urinary calcium measurements are efficacious for monitoring resolution of vitamin D deficiency, with a goal 24-h urinary calcium excretion of 100-250 mg/24 h.

For a more detailed discussion, see Bringhurst FR, Demay MB, Krane SM, Kronenberg HM: Bone and Mineral Metabolism in Health and Disease, Chap. 423, p. 2454; Lindsay R, Cosman F: Osteoporosis, Chap. 425, p. 2488, in HPIM-19.

Outline

Section 13. Endocrinology and Metabolism