Chronic idiopathic hyperphosphatasia. Report of a case treated with pamidronate and a review of the literature

J Rheumatol. 1992 Apr;19(4):642-5.

Abstract

We describe the case of a 38-year-old woman with 24 years of progressive skeletal deformities. Radiologic survey showed evidence of generalized skeletal involvement. She presented with secondary osteoarthritis, and her hands showed Heberden's and Bouchard's nodes. Light microscopic examination showed many reversed lines in the trabeculae and increased bone resorption and bone forming areas. On electron microscopic study there were intranuclear inclusions in the osteoclasts. To our knowledge, she is the oldest patient described in the English literature, and the first treated with (3-amino-1-hydroxypropilidene)-1,1 biphosphonate (Pamidronate). She showed a decrease in serum alkaline phosphatase, urinary hydroxyproline. Clinical variables showed good response to medication.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alkaline Phosphatase / blood*
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / pathology
  • Chronic Disease
  • Diphosphonates / therapeutic use*
  • Female
  • Humans
  • Hydroxyproline / urine
  • Pamidronate
  • Radiography

Substances

  • Diphosphonates
  • Alkaline Phosphatase
  • Pamidronate
  • Hydroxyproline