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( Gennady Storozhakov ),( Elena Reznik ),( Maria Komissarova ),( Sergey Lepkov ),( Gennady Gendlin ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: Factor XIII defi ciency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Connective tissue dysplasias comprise a heterogeneous group of diseases, characterized by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs. Combination of factor XIII defi ciency and connective tissue dysplasia wasn`t described well. Case report: 30-years-old man presented to the emergency department complaining of progressive pain in left part of back and left part of abdomen, syncope, weakness, and dysuria. Patient had no history of a bruising or bleeding tendency and any injury. The massive left side retroperitoneal hematoma was revealed after screening tests. Patient was promptly taken for surgical evacuation of the hematoma. Left kidney and vessel damage wasn`t found out during the operation. The multiple plasma transfusions, comprehensive medical therapy, hemodialysis were used in the postoperative period. Despite the procedures the patient was unstable. Diagnostic work-up was unremarkable for global coagulation and platelet tests, but factor XIII activity was decreased to 36%. Repeated examination of patient (ultrasound, computed tomography imaging) revealed the massive right side retroperitoneal hematoma, bleeding in the abdomen, hemothorax, hemopericardium. Patient was promptly taken for relaparotomy, abdominoscopy, retroperitoneal space revision, hemostatic procedures. Despite the treatment the patient died during two weeks due to multiple organ failure. Autopsy revealed undifferentiated connective tissue dysplasia. Conclusions: In this case we have fatal combination of two rare diseases: factor XIII defi ciency and connective tissue dysplasia. The attention to the possibility of such combination may help promptly prescribe the right treatment to patients.
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