This case documents a rare instance of glycogen storage disease and gestational hyperlipidemic pancreatitis, emphasizing urgent care needs.
Key Points
This case highlights the rare combination of glycogen storage disease type Ia and gestational hyperlipidemic pancreatitis, presenting treatment challenges.
The patient, at 29 weeks gestation, exhibited significantly elevated triglyceride levels of 46.6 mmol/L and increased serum amylase.
Prompt intervention, including plasma exchange and double-filtration plasmapheresis, effectively reduced triglyceride levels and stabilized the patient.
Genetic testing confirmed the diagnosis of glycogen storage disease type Ia, underlining the importance of early diagnosis and tailored management strategies.