Congenital dysfibrinogenemia in major surgery: A description of four cases and review of the literature

Yan, Jie; Luo, Meiling; Xiang, Liqun; Wu, Yangyang; Lin, Faquan

doi:10.1016/j.cca.2022.01.009

Cited by 5 publications

(4 citation statements)

References 25 publications

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“…For treatment, their goal is to raise Clauss fibrinogen concentrations to more than 150 mg/dl (>1.5 g/l). In a discussion of four dysfibrinogenemia cases by Yan et al [37], the authors note that fibrinogen replacement may be unnecessary in some cases, especially if the patients are asymptomatic.…”

Section: Discussionmentioning

confidence: 99%

Dysfibrinogenemia: discrepant results following infusion of purified fibrinogen

Marin,

Mathew,

Rajasekhar

et al. 2023

Blood Coagulation &Amp; Fibrinolysis

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Inherited dysfibrinogenemias are molecular disorders of fibrinogen that affect fibrin polymerization. The majority of cases are asymptomatic, but a significant proportion suffer from increased bleeding or thrombosis. We present two unrelated cases of dysfibrinogenemia, both of whom showed a characteristic discrepancy between fibrinogen activity and the immunologic fibrinogen. In one patient, the dysfibrinogenemia was confirmed by molecular analysis; in the other case, the diagnosis was presumptive based upon laboratory studies. Both patients underwent elective surgery. Both received a highly purified fibrinogen concentrate preoperatively and demonstrated a suboptimal laboratory response to the infusion. Three methods for determining fibrinogen concentration (Clauss fibrinogen, prothrombin-derived fibrinogen, and the viscoelastic functional fibrinogen) were utilized in the case of one patient, and these techniques showed discrepant results with the classic Clauss method giving the lowest concentration. Neither patient experienced excessive bleeding during surgery. Although these discrepancies have been previously described in untreated patients, their manifestation after infusion of purified fibrinogen is less well appreciated.

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Section: Discussionmentioning

confidence: 99%

Dysfibrinogenemia: discrepant results following infusion of purified fibrinogen

Marin,

Mathew,

Rajasekhar

et al. 2023

Blood Coagulation &Amp; Fibrinolysis

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“…the results are often normal or higher, making it prone to a missed diagnosis. 10 The pregnant woman subsequently visited our hospital for diagnosis and treatment; her coagulation function test results were as follows (Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…A false reduction in fibrinogen level detected by the Clauss method may lead to a misdiagnosis of hypofibrinogenemia accompanied by abnormal coagulation function in patients with dysfibrinogenemia. When the PT‐derived assay or immune turbidimetry is used to detect fibrinogen levels, the results are often normal or higher, making it prone to a missed diagnosis 10 . The pregnant woman subsequently visited our hospital for diagnosis and treatment; her coagulation function test results were as follows (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Misdiagnosis of a patient with congenital dysfibrinogenemia: A case report and literature review

Chen

Yan

Xiang

et al. 2022

Clinical Laboratory Analysis

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Background We reported a patient with congenital dysfibrinogenemia who was misdiagnosed and reviewed relevant literature, in order to discuss the methods to reduce misdiagnosis. Methods A 23‐year‐old pregnant woman was found to be with low fibrinogen in antenatal examination at another province teaching hospital, who was misdiagnosed to have hypofibrinogenemia. Fibrinogen infusion or cryoprecipitation was recommended if necessary. The patient came to our hospital for further diagnosis and treatment considering the safety of herself and the fetus. We examined the coagulation function and gene sequencing of the pregnant woman and her family members. Results Fibrinogen (Clauss method) was significantly reduced in the patient and her mother, while the level of fibrinogen (PT‐derived method) was normal. Thrombin time was prolonged. Heterozygous mutation site was found in exon 2 of the FGA gene, c.104G > A(p.Arg35His). Conclusion When the fibrinogen (Clauss method) is significantly reduced and the thrombin time is prolonged, PT‐derived method and the investigation of family coagulation function should be added, which can be used to diagnose and distinguish congenital dysfibrinogenemia from hypofibrinogenemia.

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“…It can be either inherited or acquired (Shapiro, 2018), and both varieties exist. In acquired dysfibrinogenemia, a rise in the sialic acid content of the carbohydrate side chain of fibrinogen molecules is the most common event, explaining this functional anomaly's etiology (Li et al, 2022;Yan et al, 2022). Ultimately, fibrin clot abnormalities are the end outcome of dysfibrinogenemia.…”

Section: Introductionmentioning

confidence: 99%

Frequency of Acquired Dysfibrinogenemia Among Chronic Liver Disease Patients Presenting at Tertiary Care Hospital

KHAN,

SHAH,

SALAM

et al. 2023

Biol Clin Sci Res J

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A cross-sectional study was conducted at the Department of Pathology, Sharif Medical and Dental College Lahore, Pakistan, from January 2023 to June 2023. The total no of patients was 120 presented with chronic liver disease. The frequency of acquired dysfibrinogenemia was determined. The Chi-Square test with a P value < 0.05 as significant was used for the association between categorical variables. Most of the patients presenting were male patients compared to female patients. The frequency of acquired dysfibrinogenemia was 45 (38.3%). We found a significant association between acquired dysfibrinogenemia and the severity of the disease on the Child-Pugh Score. Our study concluded that the frequency of acquired dysfibrinogenemia in chronic liver disease patients was 45 (38.3%).

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Congenital dysfibrinogenemia in major surgery: A description of four cases and review of the literature

Cited by 5 publications

References 25 publications

Dysfibrinogenemia: discrepant results following infusion of purified fibrinogen

Dysfibrinogenemia: discrepant results following infusion of purified fibrinogen

Misdiagnosis of a patient with congenital dysfibrinogenemia: A case report and literature review

Frequency of Acquired Dysfibrinogenemia Among Chronic Liver Disease Patients Presenting at Tertiary Care Hospital

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