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Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy
Insights
Familial hyperphosphatasemia, a rare hereditary bone disorder, causes abnormal bone formation and destruction. Early diagnosis in infancy via long bone abnormalities is possible, and the condition is treatable with human thyrocalcitonin.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Endocrinology
- Skeletal Dysplasias
Background:
- Familial hyperphosphatasemia is a rare genetic disorder characterized by simultaneous bone overproduction and overdestruction.
- Osteocyte dysfunction leads to impaired maturation of bone into compact lamellar bone.
Observation:
- Presents two cases of severely affected infants with familial hyperphosphatasemia.
- Highlights that diagnosis can be made in early infancy through long bone abnormalities.
- Notes that skull abnormalities, specifically calvarial thickening, may appear later in the disease progression.
Findings:
- Familial hyperphosphatasemia can be identified in infancy by specific long bone abnormalities.
- The characteristic calvarial thickening may not be present in early infancy.
Implications:
- Early diagnosis of familial hyperphosphatasemia is feasible through skeletal surveys in infancy.
- Human thyrocalcitonin demonstrates therapeutic efficacy in treating familial hyperphosphatasemia.
- Understanding the disease progression aids in timely intervention and management of affected children.
Abstract:
Familial hyperphosphatasemia is an uncommon hereditary disorder of membranous bone with concurrent overproduction and overdestruction of bone and bone collagen by osteocytes. This process does not allow normal maturation into compact lamellar bone. Two cases of severely affected children are presented which demonstrate that the condition can be diagnosed in early infancy by abnormalities in the long bones. At this stage the skull may appear normal and the characteristic thickening of the calvarium appears later. The disease is treatable with human thyrocalcitonin; these and previously reported cases have responded favorably.