Endocrine Abstracts

Background: Osteogenesis Imperfecta (OI) is commonly defined as ‘brittle bones’ disease, but there are also more characteristics like blue sclerae, hearing loss, dental problems, ligamentous laxity and a short stature. Easy bruising is also a very common feature and there are multiple case reports on haemorrhagic events in OI. Larger population studies on bleeding tendency in OI are very sparse, while other connective tissue disorders with easy bruising have much more relevant research. This paper reviews the clinical aspects of bleeding in bruising in OI based on the self-bleeding assessment tool (BAT) questionnaire among a large cohort of OI patients. The emphasis of this study will be a first translation to clinical consequences of bleeding due to surgery, tooth extraction, menstrual and obstetrical bleeding and to present therapeutic considerations relevant to bleeding in OI.

Methods: This explorative study was conducted at the national expert center for adults with OI in the Netherlands. The self-BAT was digitally distributed among 354 adults with different clinically confirmed types of OI.

Results: 195/354 patients with OI types 1,3 and 4 were included. Self-BAT scores were increased in 37-44%.

Conclusion: Bleeding tendency seem to be a relevant feature in OI patients. This study should be a wakeup call for all clinicians treating OI patients for assessing bleeding tendency and taking the right interventions to reduce haemorrhagic symptoms and improve quality of life.