Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 6, 2022; 10(28): 10273-10278
Published online Oct 6, 2022. doi: 10.12998/wjcc.v10.i28.10273
Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report
Jie Wang, Yi Zhao, Pan Chang, Bin Liu, Rong Yao
Jie Wang, Yi Zhao, Pan Chang, Bin Liu, Department of Anesthesiology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China
Rong Yao, Department of Emergency, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China
Author contributions: Wang J analyzed the data and wrote the manuscript; Zhao Y and Chang P assisted in the collection of patient's data; Liu B and Yao R supervised the writing of this article; All authors have read and approve the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
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).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Rong Yao, MD, Doctor, Department of Emergency, West China Hospital of Sichuan University, No. 37 Guoxue Road, Chengdu 610041, Sichuan Province, China. yaorong_hx@163.com
Received: May 13, 2022
Peer-review started: May 13, 2022
First decision: June 16, 2022
Revised: July 4, 2022
Accepted: August 23, 2022
Article in press: August 23, 2022
Published online: October 6, 2022
Processing time: 137 Days and 5.2 Hours
Abstract
BACKGROUND

Glycogen storage disease type Ia (GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase (G6Pase), leading to disturbed glycogenolysis and gluconeogenesis. Patients with GSDIa show severe fasting hypoglycemia, hyperlipidemia, hyperlactacidemia, and hyperuricemia, which are associated with fatal outcomes in pregnant women and fetuses.

CASE SUMMARY

Herein, we report the case of a 24-year-old female who on her first visit to the hospital, presented with pregnancy combined with extremely high hyperlipidemia and hyperlactic acidosis with anemia, and frequent hypoglycemia occurred during the treatment. Genetic tests revealed a mutation in the G6Pase gene (G6PC) at 17q21, the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment. She has been treated with a continuous double filtration plasmapheresis (DFPP) strategy to remove blood lipids, and a cornstarch diet therapy. The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered.

CONCLUSION

Patients with GSDIa may be misdiagnosed as epilepsy. DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.

Keywords: Glycogen storage disease type Ia; Pregnancy; Hyperlipidemia; Double filtration plasmapheresis; Case report

Core Tip: Glycogen storage disease type Ia (GSDIa) is a glucose metabolic disorder caused by the deficiency of the enzyme glucose-6-phosphatase. The gold standard for diagnosis is genetic testing, and the main treatment is a corn starch diet. Specific risks are associated with GSDIa patients during pregnancy. Herein, we described a woman who suffered from GSDIa but had been misdiagnosed with recurrent seizures for 22 years. She developed anemia and extreme hyperlipidemia during pregnancy. After genetic testing and double filtration plasmapheresis lipid-lowering treatment, the patient was accurately diagnosed and eventually gave birth to a healthy baby.