Successful Treatment of Rapidly Progressive Life-Threatening Esophageal Submucosal Hematoma in a Patient With van der Hoeve Syndrome.

Osteogenesis imperfecta (OI) is a rare inherited disorder of the connective tissue with many reports on its association with bleeding diatheses. OI patients with blue sclera, hearing loss, and bone vulnerability are classified as having van der Hoeve syndrome. Here, we report the first case of rapidly progressing, massive esophageal submucosal hematoma in this syndrome. Bleeding in OI is reportedly due to defective capillary integrity and platelet dysfunction; however, our patient did not show such findings. Multiple factors contributed to the bleeding diathesis, including dysfunction of platelet and platelet-endothelial cell interaction, which could not be proven in vitro.