Congenital dysfibrinogenemia misdiagnosed and inappropriately treated as acute fatty liver in pregnancy: A case report and review of literature

doi:10.12998/wjcc.v10.i35.12996

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World Journal of Clinical Cases

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Case Report

World J Clin Cases. Dec 16, 2022; 10(35): 12996-13005
Published online Dec 16, 2022. doi: 10.12998/wjcc.v10.i35.12996

Congenital dysfibrinogenemia misdiagnosed and inappropriately treated as acute fatty liver in pregnancy: A case report and review of literature

Shu-Li Yang, Qing-Yu Wang, Yi-Shi Wu, Xi-Wen Zhang, Yan Jia

Yan Jia, Xi-Wen Zhang, Yi-Shi Wu, Shu-Li Yang, Department of Obstetrics and Gynecology, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China

Qing-Yu Wang, Department of Orthopedic Medical Center, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China

Author contributions: Jia Y and Zhang XW participated in manuscript writing, editing, and in the literature search; Zhang XW, Wu YS and Wang QY performed data collection under the supervision of Yang SL; the manuscript was drafted by Jia Y, reviewed by all authors, and revised with contributions from all authors under the supervision and final revision of Yang SL; Yang SL was responsible for the integrity of the work from inception to the finished article; all authors read and approved the final manuscript and contributed to the review and interpretation of data.

Supported by Natural Science Fund of Jilin Province, No. YDZJ202201ZYTS278.

Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.

Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.

CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).

Corresponding author: Shu-Li Yang, MD, Chief Doctor, Department of Obstetrics and Gynecology, The Second Hospital of Jilin University, No. 128 Ziqiang Street, Changchun 130000, Jilin Province, China. yangsl@jlu.edu.cn

Received: July 18, 2022
Peer-review started: July 18, 2022
First decision: October 13, 2022
Revised: October 24, 2022
Accepted: November 28, 2022
Article in press: November 28, 2022
Published online: December 16, 2022
Processing time: 148 Days and 15.8 Hours

Abstract

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.

Keywords: Gene mutation; Fibrinogen; Congenital dysfibrinogenemia; Pregnancy; Case report

Core Tip: Pregnant women with congenital dysfibrinogenemia (CD) may have atypical symptoms, which can easily lead to misdiagnosis. The purpose of this study was to report the rare case of a pregnant woman with CD who was misdiagnosed with acute fatty liver. She was treated according to the principles of acute fatty liver but achieved good clinical results. DNA sequencing was carried out on the pregnant woman and her pedigree. The DNA sequencing results showed that the woman carried a pathogenic heterozygous variation of the fibrinogen alpha chain gene closely related to hereditary fibrinogen abnormality, and the mutation site was located in p.R350H.