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

Abstract

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.

The FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case report

“…However, these tests are of limited value in the etiological diagnosis of CD. In addition, interpretation of laboratory results for coagulation disorders can be complex, and misinterpretation of results often causes misdiagnosis or delayed diagnosis of CD, ultimately resulting in unnecessary or inappropriate treatments and an increased risk of fatal complications such as excessive bleeding, recurrent thrombotic events, and multiple organ failure (3)(4)(5)(6). As CD is a genetic disease, genetic testing is often necessary for the definitive diagnosis and appropriate management of CD, especially when there is a suspected underlying genetic predisposition to unexplained thrombosis.…”