Physical disability and quality-of-life burden in McCune-Albright syndrome: a nationwide survey in Japan
Abstract
McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by somatic gain-of-function variants in GNAS and frequently associated with fibrous dysplasia (FD). FD-related complications impair physical function and quality of life (QOL), yet Japanese data are lacking. We conducted a nationwide survey to characterize functional impairment and physician-perceived QOL factors in patients with MAS in Japan. Data on 43 patients were collected using a web-based questionnaire sent to council members of the Japanese Society for Pediatric Endocrinology and the Japanese Society for Bone and Mineral Research. Motor disability was assessed using the Japanese version of the modified Rankin Scale (mRS); respiratory, visual, and hearing impairments were graded using the Japanese severity criteria for designated intractable diseases. Physicians identified the single factor perceived as most affecting each patient's QOL. Motor impairment was present in 72.1%, including moderate or severe impairment (mRS ≥3) in 30.2%; other impairments were each absent in more than 80%. The most frequent QOL-affecting factor was bone pain or fractures (37.2%), followed by facial deformity or appearance changes (18.6%) and mobility or physical activity limitation (16.3%). Physician-perceived QOL factors differed by mRS group (p < 0.001): bone pain and facial deformity predominated in patients with mRS <3, whereas mobility limitation predominated in those with mRS ≥3. These findings indicate that FD-related skeletal manifestations are a major source of disability and QOL burden in Japanese patients with MAS, supporting stratified management tailored to motor disability.
Related
- Nationwide trends in physical disability among rheumatoid arthritis patients in Korea (2010–2022): A retrospective cohort study based on national registry data
- Acute Enlargement of a Frontal Calvarial Lesion in Polyostotic Fibrous Dysplasia Associated with McCune–Albright Syndrome: A Case Report
- Diet and physical activity in multiple sclerosis: associations with quality of life and disability by disease duration.
- MAScINSIGHT: A Real-World Data Study to Deepen Knowledge and Management of McCune-Albright Syndrome - Study Protocol for an Observational Study within OHDSI
- Associations of Physical Activity and Diet Quality With Mortality and Cardiovascular Disease in Cardiovascular-Kidney-Metabolic Syndrome.
BibTeX
@article{shibata2026physical,
title = {{Physical disability and quality-of-life burden in McCune-Albright syndrome: a nationwide survey in Japan}},
author = {Hironori Shibata and Tomohiro Ishii and Keiichi Ozono and Tomonobu Hasegawa},
journal = {Endocrine Journal},
year = {2026},
month = sep,
doi = {10.1507/endocrj.ej26-0366},
url = {https://www.jstage.jst.go.jp/article/endocrj/advpub/0/advpub_EJ26-0366/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Physical disability and quality-of-life burden in McCune-Albright syndrome: a nationwide survey in Japan
AU - Hironori Shibata
AU - Tomohiro Ishii
AU - Keiichi Ozono
AU - Tomonobu Hasegawa
PY - 2026
DA - 2026/09/30
JO - Endocrine Journal
DO - 10.1507/endocrj.ej26-0366
UR - https://www.jstage.jst.go.jp/article/endocrj/advpub/0/advpub_EJ26-0366/_article
AB - McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by somatic gain-of-function variants in GNAS and frequently associated with fibrous dysplasia (FD). FD-related complications impair physical function and quality of life (QOL), yet Japanese data are lacking. We conducted a nationwide survey to characterize functional impairment and physician-perceived QOL factors in patients with MAS in Japan. Data on 43 patients were collected using a web-based questionnaire sent to council members of the Japanese Society for Pediatric Endocrinology and the Japanese Society for Bone and Mineral Research. Motor disability was assessed using the Japanese version of the modified Rankin Scale (mRS); respiratory, visual, and hearing impairments were graded using the Japanese severity criteria for designated intractable diseases. Physicians identified the single factor perceived as most affecting each patient's QOL. Motor impairment was present in 72.1%, including moderate or severe impairment (mRS ≥3) in 30.2%; other impairments were each absent in more than 80%. The most frequent QOL-affecting factor was bone pain or fractures (37.2%), followed by facial deformity or appearance changes (18.6%) and mobility or physical activity limitation (16.3%). Physician-perceived QOL factors differed by mRS group (p < 0.001): bone pain and facial deformity predominated in patients with mRS <3, whereas mobility limitation predominated in those with mRS ≥3. These findings indicate that FD-related skeletal manifestations are a major source of disability and QOL burden in Japanese patients with MAS, supporting stratified management tailored to motor disability.
SN - 1348-4540
SN - 0918-8959
ER -