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Functional Impairment of Hip Joint and Activities of Daily Living Failure in Patients with Multiple Hereditary Exostoses

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Abstract

Objective

In this study, we focused on the hip joints and examined pain and functional impairment, and their relationship with anatomical characteristics in MHE patients.

Methods

Patients with MHE followed up in our hospital from January 2020 to December 2020 were enrolled. Clinical hip functional outcomes were evaluated using the Japanese Orthopedic Association (JOA) hip score and hip range of motion (ROM). Proximal femur geometric measurements were evaluated using radiography.

Results

A total of 39 patients (78 hips) with a median age of 25.6 years and average JOA score of 94.0 ± 10.5 were included. Eight patients felt pain in their hip joints. The average ROM score was 18.2 ± 2.5, and 47.4% of the patients with MHE had ROM limitation. The average score of ability to walk was 19.6 ± 1.8, and three patients had some problems with walking. The average ADL score was 18.2 ± 2.5, and 51.3% of patients with MHE had some failures in ADL. The hip flexion and internal rotation were markedly restricted compared with the normal values. When patients were grouped according to their ADL scores, we found that the ADL failure group had a significantly lower ROM score than the no ADL failure group (p < 0.0001), and there were significant differences between the groups in terms of femoral neck widening (p = 0.0001).

Conclusions

We found that half of MHE patients had some failures in their ADL due to hip functional impairment. The study results also suggest that femoral neck widening affected ADL failure and ROM limitation.

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References

  1. Akita, S., Murase, T., Yonenobu, K., Shimada, K., Masada, K., & Yoshikawa, H. (2007). Long-term results of surgery for forearm deformities in patients with multiple cartilaginous exostoses. Journal of Bone and Joint Surgery. American Volume, 89(9), 1993–1999.

    Article  Google Scholar 

  2. Matsumoto, Y., Matsumoto, K., Harimaya, K., Okada, S., Doi, T., & Iwamoto, Y. (2015). Scoliosis in patients with multiple hereditary exostoses. European Spine Journal., 24(7), 1568–1573.

    Article  Google Scholar 

  3. Matsumoto, K., Irie, F., Mackem, S., & Yamaguchi, Y. (2010). A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses. Proceedings of the National Academy of Sciences United States of America, 107(24), 10932–10937.

    Article  CAS  Google Scholar 

  4. Ishimaru, D., Gotoh, M., Takayama, S., Kosaki, R., Matsumoto, Y., Narimatsu, H., Sato, T., Kimata, K., Akiyama, H., Shimizu, K., & Matsumoto, K. (2016). Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. BMC Genetics, 9(17), 52.

    Article  Google Scholar 

  5. Matsumoto, K., Ogawa, H., Nozawa, S., & Akiyama, H. (2020). An analysis of osteoporosis in patients with hereditary multiple exostoses. Osteoporosis International, 31(12), 2355–2361.

    Article  CAS  Google Scholar 

  6. Ahn, J., Ludecke, H. J., Lindow, S., Horton, W. A., Lee, B., Wagner, M. J., Horsthemke, B., & Wells, D. E. (1995). Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nature Genetics, 11(2), 137–143.

    Article  CAS  Google Scholar 

  7. Stickens, D., Clines, G., Burbee, D., Ramos, P., Thomas, S., Hogue, D., Hecht, J. T., Lovett, M., & Evans, G. A. (1996). The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nature Genetics, 14(1), 25–32.

    Article  CAS  Google Scholar 

  8. Czajka, C. M., & DiCaprio, M. R. (2015). What is the proportion of patients with multiple hereditary exostoses who undergo malignant degeneration? Clinical Orthopaedics and Related Research, 473, 2355–2361.

    Article  Google Scholar 

  9. Goud, A. L., de Lange, J., Scholtes, V. A., Bulstra, S. K., & Ham, S. J. (2012). Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: A national cohort study. Journal of Bone and Joint Surgery. American Volume, 94(11), 1013–1020.

    Article  CAS  Google Scholar 

  10. Legeai-Mallet, L., Munnich, A., Maroteaux, P., & Le Merrer, M. (1997). Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clinical Genetics, 52(1), 12–16.

    Article  CAS  Google Scholar 

  11. Pedrini, E., Jennes, I., Tremosini, M., Milanesi, A., Mordenti, M., Parra, A., Sgariglia, F., Zuntini, M., Campanacci, L., Fabbri, N., Pignotti, E., Wuyts, W., & Sangiorgi, L. (2011). Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: Identification of “protective” and “risk” factors. Journal of Bone and Joint Surgery. American Volume, 93(24), 2294–2302.

    Article  Google Scholar 

  12. Solomon, L. (1964). Hereditary multiple exostosis. American Journal of Human Genetics, 16(3), 351e63.

    Google Scholar 

  13. Shaprio, F., Simon, S., & Glimcher, M. J. (1979). Hereditary multiple exostoses. Anthropometric, roentgenographic, and clinical aspects. Journal of Bone and Joint Surgery, 61(6), 81524.

    Google Scholar 

  14. Felix, N. A., Mazur, J. M., & Loveless, E. A. (2000). Acetabular dysplasia associated with hereditary multiple exostoses. A case report. The Journal of Bone and Joint Surgery. British volume., 82, 555–557.

    Article  CAS  Google Scholar 

  15. Ofiram, E., & Porat, S. (2004). Progressive subluxation of the hip joint in a child with hereditary multiple exostosis. Journal of Pediatric Orthopaedics B, 13(6), 371e3.

    Article  Google Scholar 

  16. Ozaki, T., Kawai, A., Sugihara, S., Takei, Y., & Inoue, H. (1996). Multiple osteocartilaginous exostosis. Archives of Orthopaedic and Trauma Surgery, 115(5), 255e61.

    Article  Google Scholar 

  17. Porter, D. E., Benson, M. K., & Hosney, G. A. (2001). The hip in hereditary multiple exostoses. The Journal of Bone and Joint Surgery. British volume, 83(7), 988e95.

    Article  Google Scholar 

  18. Malagon, V. (2001). Development of hip dysplasia in hereditary multiple exostosis. Journal of Pediatric Orthopaedics, 21(2), 205e11.

    Google Scholar 

  19. El-Fiky, T. A. M., Chow, W., Li, Y. H., & To, M. (2009). Hereditary multiple exostoses of the hip. Journal of Orthopaedic Surgery, 17(2), 161e5. (Hong Kong).

    Article  Google Scholar 

  20. Kuribayashi, M., Takahashi, K. A., Fujioka, M., Ueshima, K., Inoue, S., & Kubo, T. (2010). Reliability and validity of the Japanese Orthopaedic Association hip score. Journal of Orthopaedic Science, 15, 452–458.

    Article  Google Scholar 

  21. Matsumoto, K., Ogawa, H., & Akiyama, H. (2020). Radiographic characteristics of the hip joint in skeletally mature patients with multiple hereditary exostoses. Skeletal Radiology, 49(11), 1773–1779.

    Article  Google Scholar 

  22. Roach, K. E., & Miles, T. P. (1991). Normal hip and knee active range of motion: The relationship to age. Physical Therapy, 71(9), 656–665.

    Article  CAS  Google Scholar 

  23. Chhina, H., Davis, J. C., & Alvarez, C. M. (2012). Health-related quality of life in people with hereditary multiple exostoses. Journal of Pediatric Orthopedics, 32(2), 210–214.

    Article  Google Scholar 

  24. D’Ambrosi, R., Ragone, V., Caldarini, C., Serra, N., Usuelli, F. G., & Facchini, R. M. (2017). The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. Archives of Orthopaedic and Trauma Surgery, 137(2), 209–215.

    Article  Google Scholar 

  25. Ahn, Y. S., Kim, S., Kim, W. J., Lim, J. H., & Jung, S. T. (2021). Characteristics of hip impingement syndrome in patients with multiple hereditary exostoses. BMC Musculoskeletal Disorders, 22(1), 153.

    Article  Google Scholar 

  26. Sorel, J. C., Façee Schaeffer, M., Homan, A. S., Scholtes, V. A., Kempen, D. H., & Ham, S. J. (2016). Surgical hip dislocation according to Ganz for excision of osteochondromas in patients with multiple hereditary exostoses. The Bone and Joint Journal., 98-B(2), 260–265.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Orthopaedic Surgery, Graduate School of Medicine, Gifu University, 1-1, Yanagido, Gifu, 501-1194, Japan

    Kazu Matsumoto, Hiroyasu Ogawa, Shingo Komura & Haruhiko Akiyama

  2. Department of Orthopaedic Surgery, Ogaki Tokushukai Hospital, Gifu, Japan

    Hiroyasu Ogawa

  3. Orthopedic Surgery, Gifu Seiryu Hospital, Gifu, Japan

    Kazu Matsumoto

Authors
  1. Kazu Matsumoto
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  2. Hiroyasu Ogawa
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  3. Shingo Komura
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  4. Haruhiko Akiyama
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Correspondence to Kazu Matsumoto.

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The authors declare that they have no conflict of interest.

Ethical approval

Our institute’s ethics committee approved all of procedures performed in this study (approval number: 22-221).

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Informed consent was obtained from all participants.

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Matsumoto, K., Ogawa, H., Komura, S. et al. Functional Impairment of Hip Joint and Activities of Daily Living Failure in Patients with Multiple Hereditary Exostoses. JOIO 56, 1572–1577 (2022). https://doi.org/10.1007/s43465-022-00681-w

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  • DOI: https://doi.org/10.1007/s43465-022-00681-w

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