A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature

Medicine (Baltimore). 2020 Oct 16;99(42):e22644. doi: 10.1097/MD.0000000000022644.


Rationale: Glycogen storage disease type IA (GSD IA) is an inherited disorder of glycogen metabolism characterized by fasting hypoglycemia, hyperuricemia, and hyperlipidemia including hypertriglyceridemia (HTG). Patients have a higher risk of developing acute pancreatitis (AP) because of HTG. AP is a potentially life-threatening disease with a wide spectrum severity. Nevertheless, almost no reports exist on GSD IA-induced AP in adult patients.

Patient concerns: A 23-year-old male patient with GSD 1A is presented, who developed moderate severe AP due to HTG.

Diagnoses: The GSD 1A genetic background of this patient was confirmed by Sanger sequencing. Laboratory tests, along with abdominal enhanced-computed tomography, were used for the diagnosis of HTG and AP.

Interventions: This patient was transferred to the intensive care unit and treated by reducing HTG, suppressing gastric acid, inhibiting trypsin activity, and relieving hyperuricemia and gout.

Outcomes: Fifteen days after hospital admission, the patient had no complaints about abdominal pain and distention. Follow-up of laboratory tests displayed almost normal values. Reexamination by computed tomography exhibited a reduction in peripancreatic necrotic fluid collection compared with the initial stage.

Lessons: Fast and long-term reduction of triglycerides along with management of AP proved effective in relieving suffering of an adult GSD IA-patient and improving prognosis. Thus, therapeutic approaches have to be renewed and standardized to cope with all complications, especially AP, and enable a better outcome so that patients can master the disease.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Glycogen Storage Disease Type I / complications*
  • Humans
  • Male
  • Pancreatitis / diagnostic imaging
  • Pancreatitis / etiology*
  • Pancreatitis / therapy
  • Young Adult

Supplementary concepts

  • Hepatorenal form of glycogen storage disease