IWO Meeting 16 November 2022 - ASBMR young talent: Silvia Storoni (Amsterdam): Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

1. Contact: s.storoni@amsterdamumc.nl
Prevalence and hospital admissions in patients with
Osteogenesis Imperfecta in The Netherlands: a nationwide
registry study
IWO Webinar
16 November 2022
Silvia Storoni
Abstract SAT-676
ASBMR Annual Meeting
September 9-12, 2022 Austin, TX
Copyright
Silvia Storoni

2. Disclosure
I have NO disclosure.
I have NO conflicts of interest with the presented material in this presentation.
Copyright
Silvia Storoni

3. Osteogenesis Imperfecta
Genetic disease:
COL1A1 gene
COL1A2 gene
Copyright
Silvia Storoni

4. Osteogenesis Imperfecta
Altered
Collagen type 1
Genetic disease:
COL1A1 gene
COL1A2 gene
Copyright
Silvia Storoni

5. Osteogenesis Imperfecta
Genetic disease:
COL1A1 gene
COL1A2 gene
Altered
Collagen type 1
Copyright
Silvia Storoni

6. Osteogenesis Imperfecta
Genetic disease:
COL1A1 gene
COL1A2 gene
Altered
Collagen type 1
Copyright
Silvia Storoni

7. Osteogenesis Imperfecta
Copyright
Silvia Storoni

8. Classification
Copyright
Silvia Storoni

9. Classification
https://en.wikipedia.org/wiki/Osteogenesis_imperfecta
Copyright
Silvia Storoni

10. Classification
Majeet et al. 2019
Copyright
Silvia Storoni

11. Classification
What is the treatment for Osteogenesis Imperfecta? - Quora
https://tandheelkunde.qualitypractice.nl/tijdschrift/editie/artikel/t/
dentinogenesis-imperfecta-etiologie-diagnostiek-en-behandeling
Copyright
Silvia Storoni

12. Classification
Tauer et al. 2019
Boric et al
2017
Copyright
Silvia Storoni

13. Osteogenesis Imperfecta
Altered
Collagen type 1
Genetic disease:
COL1A1 gene
COL1A2 gene
Copyright
Silvia Storoni

14. Osteogenesis Imperfecta
Genetic disease:
COL1A1 gene
COL1A2 gene
Altered
Collagen type 1
Copyright
Silvia Storoni

15. Osteogenesis Imperfecta
Genetic disease:
COL1A1 gene
COL1A2 gene
Altered
Collagen type 1
Copyright
Silvia Storoni

16. Amsterdam UMC study
To what extent extra skeletal complications impacts OI patients’ life in terms of
hospitalization and complications?
Copyright
Silvia Storoni

17. Methods
Copyright
Silvia Storoni

18. Methods
Copyright
Silvia Storoni

19. Methods
Copyright
Silvia Storoni

20. Methods
• Hospital admissions Information
• Length of stay per clinical admission
• Medical specialties
Copyright
Silvia Storoni

21. Results
Copyright
Silvia Storoni

22. OI cohort: 674 patients
• 2225 hospital admissions (479 patients)
• Mean length of stay of 4.50 days per clinical admission
• OI patients showed a hospitalization rate ratio 2.9 times higher than the general Dutch population (2013-2019)
Results
Copyright
Silvia Storoni

23. 2%
1%
1%
1%
4%
4%
1%
4%
2%
5%
20%
13%
41% 34%
66%
Intravenous infusion
Other
57% 29%
14%
Removal of ostesynthesis material
Fracture related surgery
Other
40%
10% 11%
24%
14%
Removal of ostesynthesis material
Fracture related surgery
Intravenous infusion
Surgical correc
ti
on of limb deformity
Other
Widely distribution of hospital admissions across medical specialties
Copyright
Silvia Storoni

24. 0%
25%
50%
75%
100%
0-19 Y 20-44 Y 45-64 Y 65-80 Y
Pediatrics Surgery Orthopedic surgery Internal Medicine Neurology Otolaryngology
Ophtalmology Gynaecology Gastroenterology Cardiology Pulmonology Urology
Other
Age of admissions by medical specialty
Copyright
Silvia Storoni

25. Take home message
Osteogenesis Imperfecta patients appear to have almost three-fold higher hospitalization rate,
when compared to the general Dutch population.
Hospitalizations seem to be due to both skeletal and extraskeletal problems, which could have
been due to complications related to OI.
Due to the seemingly higher rate of hospital admissions, more awareness about the impact of OI
on patients’ life is needed to improve and implement prevention and follow-up guidelines.
Copyright
Silvia Storoni

26. Thank you for the attention!
Contact: s.storoni@amsterdamumc.nl
Acknowledgments
Sanne Treurniet, Department of Internal Medicine, Section Endocrinology, Amsterdam Rare Bone Disease
Alessandra Maugeri, Department of Human Genetics, Amsterdam Movement Sciences, Amsterdam Rare Bone Disease
Gerard Pals, Department of Human Genetics, Amsterdam Movement Sciences, Amsterdam Rare Bone Disease
Joost G. van den Aardweg, Department of Respiratory Medicine, Amsterdam University Medical Center
Stéphanie L. van der Pas, Department of Epidemiology and Data Science (EDS), Amsterdam University Medical Center
Mariet W. Elting, Department of Human Genetics, Amsterdam University Medical Center
Peter Kloen, Department of Orthopedic Surgery, Amsterdam Movement Sciences, Amsterdam Rare Bone Disease
Dimitra Micha, Department of Human Genetics, Amsterdam Movement Sciences, Amsterdam Rare Bone Disease
E.M.W. Eekhoff, Department of Internal Medicine, Section Endocrinology, Amsterdam Rare Bone Disease
Copyright
Silvia Storoni