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Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report

Year: 2025

Type: article

Abstract: BACKGROUND: Glycogen storage disease (GSD) is a rare inherited metabolic disorder characterized by manifestations such as hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. With advancements in medical care, an increasing number of individuals with GSD are surviving into adulthood and reaching reproductive age, thereby posing significant challenges in pregnancy management. Gestational hyperlipidemic pancreatitis is a rare but potentially life-threatening obstetric emergency associated with a high mortality rate. CASE PRESENTATION: This report presents a case of a 33-year-old pregnant woman with GSD type Ia complicated by gestational hyperlipidemic pancreatitis. At 29 weeks of gestation, the patient presented with abdominal pain. Laboratory findings revealed markedly elevated triglyceride levels (46.6 mmol/L) and increased serum amylase, leading to a diagnosis of gestational hyperlipidemic pancreatitis. She was admitted to the intensive care unit for treatment, which included fasting, gastrointestinal decompression, antimicrobial therapy, and continuous renal replacement therapy, followed by cesarean delivery. To address the severe hyperlipidemia, plasma exchange and double-filtration plasmapheresis were performed. Following symptomatic treatment, the patient's condition stabilized, and she was discharged. Genetic testing later confirmed the diagnosis of GSD type Ia. CONCLUSION: The concurrence of GSD type Ia and gestational hyperlipidemic pancreatitis is exceedingly rare. Early diagnosis and prompt intervention are crucial. Therapeutic plasma exchange and double-filtration plasmapheresis are effective strategies for the rapid reduction of triglyceride levels in the early stages of management.

Source: BMC Pregnancy and Childbirth

DOI: 10.1186/s12884-025-08067-0

Authors: Yang Zhang, Liping Cui, Jian Gao, Yurong Song, Yijun Fan, Min Yang

Institutions: Anhui Medical University, Second Affiliated Hospital of Anhui Medical University

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,290