Background:

Osteogenesis imperfecta (OI) is a rare connective tissue and bone disease that results in a bone fragility of varying severity. The objective was to determine and describe the OI in the Valencia Region (VR) during the period 2004 to 2014.

Methods:

From the Rare Diseases Information System of the VR (SIER-CV) patients from 2004 to 2014 with the codes of the International Classification of Diseases for the OI were identified: 756.51 from the 9th Revision-Clinical Modification and Q78.0 from the 10th Revision. The information was validated by reviewing clinical documentation (mainly electronic health records) and a descriptive analysis of the confirmed cases (diagnosis of OI in the clinical documentation) was performed.

Results:

162 patients were identified with a code for OI. 145 of the 161 patients with available clinical documentation were confirmed as cases. The prevalence was 0.29 per 10.000 inhabitants. 93.1% were Spanish, 54.5% were women and they were treated in 25 different hospitals in the VR. The type of OI was known in the 26.4% of the cases and type I was the most common (9.7%). 6.2% of the patients died with an average death age of 60.8 years. 44.8% of patients received treatment with bisphosphonates and 10.4% had affected relatives.

Conclusion:

The real situation of the OI in the VR has been established, which will allow a better planning in the health actions to improve the quality of life of the affected ones and their families.

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