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BMC Musculoskeletal Disorders
Published in: BMC Musculoskeletal Disorders 1/2020

Open Access 01-12-2020 | Osteogenesis Imperfecta | Research article

Fatigue in adults with Osteogenesis Imperfecta

Authors: Arjan G. J. Harsevoort, Koert Gooijer, Fleur S. van Dijk, Daniëlle A. F. M. van der Grijn, Anton A. M. Franken, Anne Marieke V. Dommisse, Guus J. M. Janus

Published in: BMC Musculoskeletal Disorders | Issue 1/2020

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Abstract

Background

Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population.

Methods

The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America (n = 20) and the Netherlands (n = 113).

Results

Ninety-nine patients (OI type 1 (n = 72), OI type 3 (n = 13), OI type 4 (n = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands.

Conclusion

Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.
Literature
1.
Steiner RD, Basel D. COL1A1/2 Osteogenesis Imperfecta. [Updated 2019 Dec 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2005. p. 1993–2019.
2.
Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101–16.CrossRef
3.
Van Dijk FSS, Sillence DOO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet Part A. 2014;164:1470–81.CrossRef
4.
Rauch F, Glorieux F. Ostegenesis Imperfecta. Lancet. 2004;363(9418):1377–85.
5.
Glorieux FH. Osteogenesis imperfecta. Best Pract Res Clin Rheumatol. 2008;22:85–100.CrossRef
6.
Van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet. 2012;(1):11–9.
7.
Hill CL, Baird WO, Walters SJ. Quality of life in children and adolescents with Osteogenesis Imperfecta: a qualitative interview based study. Health Qual Life Outcomes. 2014;12:54.CrossRef
8.
Tosi LL, Oetgen ME, Floor MK, Huber MB, Kennelly AM, McCarter RJ, Rak MF, Simmonds BJ, Simpson MD, Tucker CA, McKiernan FE. Initial report of the osteogenesis imperfecta adult natural history initiative. Orphanet J Rare Dis. 2015;10:146.
9.
Arponen H, Waltimo-Sirén J, Valta H, Mäkitie O. Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - A cross-sectional questionnaire study. BMC Musculoskelet Disord. 2018;19(1):3.
10.
Van Brussel M, Takken T, Uiterwaal CSPM, Pruijs HJ, Van der Net J, Helders PJM, Engelbert RHH. Physical Training in Children with Osteogenesis Imperfecta. J Pediatr. 2008;152:111–6 e1.CrossRef
11.
Finsterer J, Mahjoub SZ. Fatigue in healthy and diseased individuals. Am J Hosp Palliat Med. 2014;31:562–75.CrossRef
12.
Dittner AJ, Wessely SC, Brown RG. The assessment of fatigue: a practical guide for clinicians and researchers. J Psychosom Res. 2004;56:157–70.CrossRef
13.
Whitehead L. The measurement of fatigue in chronic illness: a systematic review of unidimensional and multidimensional fatigue measures. J Pain Symptom Manag. 2009;37:107–28.CrossRef
14.
Krupp LB, Larocca NG, Muir Nash J, Steinberg AD. The fatigue severity scale: Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol. 1989;46(10):1121–3.CrossRef
15.
Merkies IS, Schmitz PI, Samijn JP, van der Meché FG, van Doorn PA. Fatigue in immune-mediated polyneuropathies. European Inflammatory Neuropathy Cause and Treatment (INCAT) Group. Neurology. 1999;53(8):1648–54.CrossRef
16.
Scheres LJJ, van Dijk FS, Harsevoort AJ, van Dijk ATH, Dommisse AM, Janus GJM, Franken AAM. Adults with osteogenesis imperfecta: clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements. Bone Reports Elsevier. 2018;8:168–72.CrossRef
17.
Pouchot J, Kherani RB, Brant R, Lacaille D, Lehman AJ, Ensworth S, Kopec J, Esdaile JM, Liang MH. Determination of the minimal clinically important difference for seven fatigue measures in rheumatoid arthritis. J Clin Epidemiol. 2008;61(7):705–13.CrossRef
18.
Goligher EC, Pouchot J, Brant R, Kherani RB, Aviña-Zubieta JA, Lacaille D, Lehman AJ, Ensworth S, Kopec J, Esdaile JM, Liang MH. Minimal clinically important difference for 7 measures of fatigue in patients with systemic lupus erythematosus. J Rheumatol. 2008;35(4):635–42.
19.
Lerdal A, Moum T, Wahl AK, Rustøen T, Hanestad BR. Fatigue in the general population: A translation and test of the psychometric properties of the Norwegian version of the fatigue severity scale. Scand J Public Health. 2005;33(2):123–30.CrossRef
20.
Valko PO, Bassetti CL, Bloch KE, Held U, Baumann CR. Validation of the fatigue severity scale in a Swiss cohort. Sleep. 2008;31(11):1601–7.CrossRef
21.
Hald JD, Folkestad L, Harsløf T, Brixen K, Langdahl B. Health-related quality of life in adults with Osteogenesis Imperfecta. Calcif Tissue Int Springer US. 2017;101:473–8.CrossRef
22.
Bathen T, Velvin G, Rand-Hendriksen S, Robinson HS. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors. Am J Med Genet Part A. 2014;164A(8):1931–9.CrossRef
23.
Mueller B, Engelbert R, Baratta-Ziska F, Bartels B, Blanc N, Brizola E, Fraschini P, Hill C, Marr C, Mills L, Montpetit K, Pacey V, Molina MR, Schuuring M, Verhille C, de Vries O, Yeung EHK, Semler O. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta. Orphanet J Rare Dis BioMed Central. 2018;13:158.CrossRef
24.
Dalgas U, Stenager E, Jakobsen J, Petersen T, Hansen HJ, Knudsen C, Overgaard K. Fatigue, mood and quality of life improve in MS patients after progressive resistance training. Mult Scler. 2010;16(4):480–90.CrossRef
25.
Neill J, Belan I, Ried K. Effectiveness of non-pharmacological interventions for fatigue in adults with multiple sclerosis, rheumatoid arthritis, or systemic lupus erythematosus: a systematic review. J Adv Nurs. 2006;56(6):617–35.CrossRef
26.
Peters KF, Kong F, Horne R, Francomano CA, Biesecker BB. Living with Marfan syndrom I. Perceptions of the condition. Clin Genet. 2001;60(4):273–82.CrossRef
Metadata
Title
Fatigue in adults with Osteogenesis Imperfecta
Authors
Arjan G. J. Harsevoort
Koert Gooijer
Fleur S. van Dijk
Daniëlle A. F. M. van der Grijn
Anton A. M. Franken
Anne Marieke V. Dommisse
Guus J. M. Janus
Publication date
01-12-2020
Publisher
BioMed Central
Published in
BMC Musculoskeletal Disorders / Issue 1/2020
Electronic ISSN: 1471-2474
DOI
https://doi.org/10.1186/s12891-019-3000-7

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