Abstract
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 2nd 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 γ275 Arg to His (CGC to CAC) mutation.
Highlights
Congenital dysfibrinogenemia (CD) is a qualitative congenital fibrinogen (Fbg) disorder characterized by normal antigen levels of dysfunctional Fbg
Congenital fibrinogen disorders comprise two classes of plasma fibrinogen (Fbg) defects: type I, afibrinogenemia or hypofibrinogenemia; and type II, dysfibrinogenemia or hypodysfibrinogenemia, in which there are normal or reduced antigen levels associated with disproportionately low functional activity [1] [2]
We report here an asymptomatic CD case with γ275 Arg to His (CGC to CAC) mutation, presented with massive hematomas formed soon after an abdominal hysterectomy, 2
Summary
Congenital fibrinogen disorders comprise two classes of plasma fibrinogen (Fbg) defects: type I, afibrinogenemia or hypofibrinogenemia; and type II, dysfibrinogenemia or hypodysfibrinogenemia, in which there are normal or reduced antigen levels associated with disproportionately low functional activity (qualitative fibrinogen deficiencies) [1] [2]. We report here an asymptomatic CD case with γ275 Arg to His (CGC to CAC) mutation, presented with massive hematomas formed soon after an abdominal hysterectomy, 2. After the 2nd operation, the clinical course was uneventfully excepted with low level of Fbg activity (Table 1). Pathological examination of a giant uterine tumor revealed leiomyoma (Figure 3), and two weeks after the operation, the Fbg activity showed still the low level (Table 1). We interviewed her family medical history, including hemorrhage or thrombosis episodes, and commissioned to examine the level of Fbg activity of her family in another hospital. The mutations of fibrinogen gene of this patient’s father and brother have not been examined
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