Hypophosphatasia in an Adult

Abstract

HYPOPHOSHATASIA is a rare, familial disease characterized clinically, by abnormalities of the skeleton and chemically, by low serum and tissue alkaline phosphatase values and the presence of excessive quantities of phosphoethanolamine in the plasma and urine. It is believed to be inherited as an autosomal recessive trait.1The disease usually makes its appearance in infancy or childhood, with skeletal abnormalities that are similar to those seen in rickets. Premature loss of deciduous teeth is common. In infancy, the bone disease is particularly severe and, in addition, there may be premature cranial synostosis, hypercalcemia, and renal damage. Relatively few cases of hypophosphatasia have been recognized in adults.2-8In these cases, the disease has been mild, and the only symptoms were the result of occasional skeletal fractures and pseudofractures. Herein we report the clinical, laboratory, and bone biopsy findings of the tenth case of hypophosphatasia in an adult.