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Familial idiopathic hyperphosphatasia (FIH): response to long-term treatment with pamidronate (APD)
H R Cassinelli1, C A Mautalen, J J Heinrich
1Division de Endocrinologia, Hospital de Niños R. Gutierrez, Buenos Aires, Argentina.
Insights
Pamidronate (APD) treatment shows promise for familial idiopathic hyperphosphatasia (FIH). A 5-year-old patient experienced significant clinical and radiological improvements with no side effects.
Area of Science:
- Pediatric Endocrinology
- Metabolic Bone Disease
- Pharmacology
Background:
- Familial idiopathic hyperphosphatasia (FIH) is a rare genetic disorder affecting bone metabolism.
- Effective long-term treatment strategies for FIH remain an area of investigation.
Observation:
- A 5-year-old FIH patient received intravenous pamidronate (APD) followed by oral APD and calcium supplementation.
- Initial IV treatment led to decreased serum calcium and phosphate, with a rapid reduction in hydroxyprolinuria.
- Oral APD treatment over one year resulted in significant clinical and radiological improvements.
Findings:
- Plasma alkaline phosphatase decreased by 70% after one year of oral APD.
- Hydroxyprolinuria levels remained significantly lower than baseline throughout the treatment period.
- Serum calcium, phosphate, and PTH levels normalized or returned to baseline values.
Implications:
- Pamidronate (APD) demonstrates potential as a safe and effective therapeutic agent for pediatric FIH.
- This case study suggests a combined IV and oral APD regimen may offer substantial benefits.
- Further research is warranted to establish optimal dosing and long-term efficacy of APD in FIH.
Abstract:
A 5-year-old child suffering from familial idiopathic hyperphosphatasia (FIH) was treated by: (1) intravenous infusion of pamidronate (APD) (3 h) (0.75 mg/kg/day) for 5 days; and (2) oral administration of APD (8 mg/kg/day) for 1 year, in association with calcium (1 g/day) as calcium gluconate. A decrease of both serum calcium and phosphate, and a slight PTH increase were observed immediately after the IV treatment; serum alkaline phosphatase did not change, but a marked and rapid decline in the hydroxyprolinuria was observed: basal 659 +/- 207 during IV treatment 169 +/- 59 (mean +/- SD mg/24 h, P < 0.005). At the end of one year of oral APD treatment clinical and radiological findings showed a remarkable improvement. Serum calcium, phosphate and PTH returned to the initial values. Plasma alkaline phosphatase levels showed a 70% decrease: basal 1370 IU/l, 1 year 410 IU/l whereas the hydroxyprolinuria values were similar to those determined at the end of the intravenous treatment (212 +/- 13 mg/24 h), but still significantly lower than the basal levels (P < 0.01). No side-effects were observed. APD appears to be a promising treatment for patients with FIH.