BACKGROUND The purpose of this study was to report the rare case of a pregnant woman with congenital dysfibrinogenemia(CD)misdiagnosed as acute fatty liver.She was treated according to the principles of acute fatty li...BACKGROUND The purpose of this study was to report the rare case of a pregnant woman with congenital dysfibrinogenemia(CD)misdiagnosed as acute fatty liver.She was treated according to the principles of acute fatty liver but achieved good clinical results.CASE SUMMARY A 30-year-old woman presented with 39(6/7)wk of menopause and 6 h of irregular abdominal pain and attended our hospital.Emergency surgery was performed due to fetal distress.Postoperative management followed the treatment principle of acute fatty liver.DNA sequencing was carried out on the pregnant woman and her pedigree.Coagulation values of the patient on admission were prothrombin time 33.7 s,activated partial thromboplastin time 60.4 s,thrombin time 45.2 s,and fibrinogen 0.60 g/L.DNA sequencing results showed that the woman carried a pathogenic heterozygous variation of the fibrinogen alpha chain gene(FGA),which is closely related to hereditary fibrinogen abnormality,and the mutation site was located in p.R350H.After a follow-up period of 12 mo,the mother and her newborn had a good prognosis without bleeding or thrombosis.CONCLUSION Pregnant women with CD may have atypical symptoms,which can easily lead to misdiagnosis.In addition,treatment can be attempted according to the principles of acute fatty liver management.This rare pregnant patient with CD was caused by a novel FGA(p.R350H)gene mutation.展开更多
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
Stroke is a complex disease, but in some instances is the direct result of a monogenic disease. Here we report the case of a 44-year-old Italian man who experienced recurrent transitory ischemic attacks and strokes. H...Stroke is a complex disease, but in some instances is the direct result of a monogenic disease. Here we report the case of a 44-year-old Italian man who experienced recurrent transitory ischemic attacks and strokes. He also had right fetal-type posterior cerebral artery. He was diagnosed with congenital hypodysfibrinogenemia due to a mutation leading to a truncated fibrinogen gamma chain. Further studies are needed to better elucidate the links between fibrinogen dysfunction and stroke. Hypodysfibrinogenemia should be included among the monogenic diseases associated with ischemic stroke. Physicians should be aware of this condition, which may be detectable on routine assays.展开更多
基金Natural Science Fund of Jilin Province,No.YDZJ202201ZYTS278.
文摘BACKGROUND The purpose of this study was to report the rare case of a pregnant woman with congenital dysfibrinogenemia(CD)misdiagnosed as acute fatty liver.She was treated according to the principles of acute fatty liver but achieved good clinical results.CASE SUMMARY A 30-year-old woman presented with 39(6/7)wk of menopause and 6 h of irregular abdominal pain and attended our hospital.Emergency surgery was performed due to fetal distress.Postoperative management followed the treatment principle of acute fatty liver.DNA sequencing was carried out on the pregnant woman and her pedigree.Coagulation values of the patient on admission were prothrombin time 33.7 s,activated partial thromboplastin time 60.4 s,thrombin time 45.2 s,and fibrinogen 0.60 g/L.DNA sequencing results showed that the woman carried a pathogenic heterozygous variation of the fibrinogen alpha chain gene(FGA),which is closely related to hereditary fibrinogen abnormality,and the mutation site was located in p.R350H.After a follow-up period of 12 mo,the mother and her newborn had a good prognosis without bleeding or thrombosis.CONCLUSION Pregnant women with CD may have atypical symptoms,which can easily lead to misdiagnosis.In addition,treatment can be attempted according to the principles of acute fatty liver management.This rare pregnant patient with CD was caused by a novel FGA(p.R350H)gene mutation.
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.
文摘Stroke is a complex disease, but in some instances is the direct result of a monogenic disease. Here we report the case of a 44-year-old Italian man who experienced recurrent transitory ischemic attacks and strokes. He also had right fetal-type posterior cerebral artery. He was diagnosed with congenital hypodysfibrinogenemia due to a mutation leading to a truncated fibrinogen gamma chain. Further studies are needed to better elucidate the links between fibrinogen dysfunction and stroke. Hypodysfibrinogenemia should be included among the monogenic diseases associated with ischemic stroke. Physicians should be aware of this condition, which may be detectable on routine assays.
