Calcified Tissue International

, Volume 104, Issue 4, pp 364–372 | Cite as

Physical, Mental, and Social Problems of Adolescent and Adult Patients with Achondroplasia

  • Masaki MatsushitaEmail author
  • Hiroshi Kitoh
  • Kenichi Mishima
  • Satoshi Yamashita
  • Nobuhiko Haga
  • Sayaka Fujiwara
  • Keiichi Ozono
  • Takuo Kubota
  • Taichi Kitaoka
  • Naoki Ishiguro
Original Research


Patients with achondroplasia (ACH) require various medical interventions throughout the lifetime. Survey of health-related quality of life (HRQoL) in adult ACH patients is essential for the evaluation of treatment outcomes performed during childhood such as growth hormone administration and limb lengthening surgeries, but no study focused on the treatment strategy by analyzing HRQoL of ACH patients. The purpose of this study was to assess whether final height impacted on HRQoL and to evaluate what kinds of medical interventions were positively or negatively associated with HRQoL. We included 184 ACH patients (10–67 years old) who were registered in the patients’ associations or who had a medical history of the investigators’ institutions, and analyzed HRQoL by using Short Form-36 and patient demographics. Physical component summary (PCS) was significantly lower than the standard values in each age, especially in elderly populations, while mental component summary (MCS) was similar to the standard values. Role/social component summary was deteriorated only in elderly populations. The PCS was improved in the patients who had a height of 140 cm or taller (p < 0.001). The PCS and MCS were strongly associated with the past medical history of spine surgeries (p < 0.001 and p = 0.028, respectively). A treatment strategy would be planned to gain a final height of 140 cm or taller during childhood in combination with growth hormone administration and limb lengthening surgeries. Appropriate medical management for neurological complications of adult ACH patients is required to maintain physical and mental function.


Achondroplasia SF-36 Quality of life Height Limb lengthening Spine 



This work was supported by Health Labour Sciences Research Grants, the Ministry of Health, Labour and Welfare, Japan.

Author Contributions

MM, HK, KO, and NI designed the study. MM prepared the first draft of the paper. He is guarantor. KM, NH, SF, TK, and TK conducted the experimental work. SY was responsible for statistical analysis of the data. All authors revised the paper critically and approved the final version.

Compliance with Ethical Standards

Conflict of interest

Masaki Matsushita, Hiroshi Kitoh, Kenichi Mishima, Satoshi Yamashita, Nobuhiko Haga, Sayaka Fujiwara, Keiichi Ozono, Takuo Kubota, Taichi Kitaoka, and Naoki Ishiguro have no commercial associations that might pose a conflict of interest in connection with the submitted article.

Human and Animal Rights and Informed Consent

This study complied with ethical standards of research involving human participants and was approved by the Ethics Review Committee of Nagoya University Graduate School of Medicine (Reference Number: 2015-0412). Informed consent was obtained from all patients.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Masaki Matsushita
    • 1
    Email author
  • Hiroshi Kitoh
    • 1
  • Kenichi Mishima
    • 1
  • Satoshi Yamashita
    • 2
  • Nobuhiko Haga
    • 3
  • Sayaka Fujiwara
    • 3
  • Keiichi Ozono
    • 4
  • Takuo Kubota
    • 4
  • Taichi Kitaoka
    • 4
  • Naoki Ishiguro
    • 1
  1. 1.Department of Orthopaedic SurgeryNagoya University Graduate School of MedicineNagoyaJapan
  2. 2.Medical IT CenterNagoya University HospitalNagoyaJapan
  3. 3.Department of Rehabilitation Medicine, Graduate School of MedicineThe University of TokyoTokyoJapan
  4. 4.Department of PediatricsOsaka University Graduate School of MedicineOsakaJapan

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