Effect of asfotase alfa on muscle weakness in a Japanese adult patient of hypophosphatasia with low ALP levels

Hiroyuki Koyama, Satoshi Yasuda, Shota Kakoi, Yasuhisa Ohata, Yuki Shimizu, Chie Hasegawa, Akiko Hayakawa, Tomoyuki Akiyama, Takashi Yagi, Daisuke Aotani, Kenro Imaeda, Keiichi Ozono, Hiromi Kataoka, Tomohiro Tanaka

Research output: Contribution to journalArticle

Abstract

A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.1559delT mutation in the tissue non-specific alkaline phosphatase gene (ALPL). Based on these findings, she was diagnosed with hypophosphatasia (HPP), and treatment with asfotase alfa, a recombinant human tissue-nonspecific alkaline phosphatase (TNSALP), was initiated. After six months of treatment with asfotase alfa, improvements were observed in the SF-36 score, six-minute walk distance, and grasping power. Although the overdiagnosis needs to be avoided, HPP should be considered in patients with undiagnosed musculoskeletal symptoms and a low serum ALP activity.

Original languageEnglish
Pages (from-to)811-815
Number of pages5
JournalInternal Medicine
Volume59
Issue number6
DOIs
Publication statusPublished - Mar 15 2020

Keywords

  • Alkaline phosphatase
  • Asfotase alfa
  • Bone metabolism
  • Hypophosphatasia

ASJC Scopus subject areas

  • Internal Medicine

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    Koyama, H., Yasuda, S., Kakoi, S., Ohata, Y., Shimizu, Y., Hasegawa, C., Hayakawa, A., Akiyama, T., Yagi, T., Aotani, D., Imaeda, K., Ozono, K., Kataoka, H., & Tanaka, T. (2020). Effect of asfotase alfa on muscle weakness in a Japanese adult patient of hypophosphatasia with low ALP levels. Internal Medicine, 59(6), 811-815. https://doi.org/10.2169/internalmedicine.3668-19