Congenital dysfibrinogenemia (CD) is a qualitative congenital fibrinogen (Fbg) disorder characterized by normal antigen levels of dysfunctional Fbg. A 41-year-old Japanese woman visited the emergent room of our hospit...Congenital dysfibrinogenemia (CD) is a qualitative congenital fibrinogen (Fbg) disorder characterized by normal antigen levels of dysfunctional Fbg. A 41-year-old Japanese woman visited the emergent room of our hospital due to acute and severe abdominal pain. Catheterization of the full bladder released her abdominal pain. Magnetic resonance imaging showed a huge pelvic mass, suggesting an intra-mural giant myoma. Before the removal operation of myoma, screening tests showed no abnormalities, including prothrombin time and activated partial thromboplastin time. However, Fbg level was not determined. The patient wanted to receive early surgical treatment, and an abdominal hysterectomy was performed as usual and the intra-operative blood loss was 100 g (ml). However, we found subcutaneous and pelvic hematomas, although active bleeding was not recognized on an emergent computed tomography examination. At that time, we noticed a low level of plasma Fbg (47 mg/dl). We performed a re-laparotomy to remove hematomas. All ligated blood vessels were re-ligated, and oozing points were vaporized. Around the re-operation, six units of fresh frozen plasma and twelve units of red blood cell suspension were transfused. The clinical course after the 2<sup>nd</sup> operation was uneventful except for the low level of Fbg. An additional study showed that the value of the Fbg activity and antigen was dissociated, and the patient was diagnosed CD with <span style="white-space:nowrap;">γ</span>275 Arg to His (CGC to CAC) mutation.展开更多
文摘Congenital dysfibrinogenemia (CD) is a qualitative congenital fibrinogen (Fbg) disorder characterized by normal antigen levels of dysfunctional Fbg. A 41-year-old Japanese woman visited the emergent room of our hospital due to acute and severe abdominal pain. Catheterization of the full bladder released her abdominal pain. Magnetic resonance imaging showed a huge pelvic mass, suggesting an intra-mural giant myoma. Before the removal operation of myoma, screening tests showed no abnormalities, including prothrombin time and activated partial thromboplastin time. However, Fbg level was not determined. The patient wanted to receive early surgical treatment, and an abdominal hysterectomy was performed as usual and the intra-operative blood loss was 100 g (ml). However, we found subcutaneous and pelvic hematomas, although active bleeding was not recognized on an emergent computed tomography examination. At that time, we noticed a low level of plasma Fbg (47 mg/dl). We performed a re-laparotomy to remove hematomas. All ligated blood vessels were re-ligated, and oozing points were vaporized. Around the re-operation, six units of fresh frozen plasma and twelve units of red blood cell suspension were transfused. The clinical course after the 2<sup>nd</sup> operation was uneventful except for the low level of Fbg. An additional study showed that the value of the Fbg activity and antigen was dissociated, and the patient was diagnosed CD with <span style="white-space:nowrap;">γ</span>275 Arg to His (CGC to CAC) mutation.
