Adult hypophosphatasia treated with reduced frequency of teriparatide dosing

Stergios A. Polyzos, Symeon Tournis, Antonis Goulas, Panagoula Kollia, Michael P. Whyte

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

We report a 41-year-old man diagnosed with the adult form of hypophosphatasia (HPP) and treated for 4 years with less frequent than conventional daily doses of teriparatide (TPTD). He presented with a history of three low-energy fractures and low bone mineral density (BMD) ineffectively treated with bisphosphonate. We identified within ALPL, the gene that encodes the homodimeric “tissue-nonspecific” isoenzyme of alkaline phosphatase (ALP) and underlies HPP, a heterozygous missense mutation (c.455 G>A→R135H). Characteristic painful periarticular calcification removed at a shoulder did not recur. However, access to medical treatment with asfotase alfa (AA) was denied. After he sustained a low-energy metatarsal fracture, we administered TPTD subcutaneously “off-label” at 20 μg/d. An elbow fracture occurred two months later. Five months afterwards, due to his limited number of approved TPTD doses, TPTD treatment was extended using alternate-day dosing. Although his serum ALP activity did not increase (33-48 U/l; reference range 40-120) with 4 years of TPTD treatment, his BMD improved 15% in the lumbar spine and 6% in the femoral neck with no further fractures. Our experience represents success overcoming two prescription deadlocks; AA was denied for adult HPP, and TPTD was not to be administered daily for more than two years.

Original languageEnglish
Pages (from-to)584-589
Number of pages6
JournalJournal of Musculoskeletal Neuronal Interactions
Volume21
Issue number4
StatePublished - Dec 2021

Keywords

  • Alkaline Phosphatase
  • Asfotase Alfa
  • Fracture
  • Hypophosphatasia
  • Teriparatide

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