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Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinism
  1. Jacob Kuzy1,
  2. Yochitha Pulipati2 and
  3. Thomas Robertson3
  1. 1Medical College, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA
  2. 2Allegheny Health Network Graduate Medical Education, Pittsburgh, Pennsylvania, USA
  3. 3Internal Medicine, Allegheny Health Network, Pittsburgh, Pennsylvania, USA
  1. Correspondence to Dr Thomas Robertson; thomas.robertson{at}ahn.org

Abstract

Glycogen storage disease type 1A (GSD1A), also known as Von Gierke’s disease, is a rare autosomal recessive disorder affecting glycogen metabolism in the liver. It most commonly presents in infancy with hypoglycaemia and failure to thrive, but cases have been reported as undiagnosed until adulthood. A woman in her early 20s with diabetes mellitus presented with right upper quadrant pain and was found to have several haemorrhagic hepatic adenomas. This patient had insulin-dependent diabetes since a pancreatectomy at age 9 months due to continued episodes of hypoglycaemia and suspected insulinoma. During the hospital stay, the hepatic adenomas were embolised, but significant lactic acidosis and hypoglycaemia continued. Further workup revealed a chronic lactic acid level, during several hospital stays, of above 5 mmol/L. After cytology of hepatic tissue ruled out hepatocellular carcinoma, the patient was discharged and recommended to follow-up for genetic testing, which confirmed the diagnosis of GSD1A.

  • Liver disease
  • Genetics
  • Hepatic cancer
  • Congenital disorders
  • General practice / family medicine

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Footnotes

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: JK, YP and TR. The following authors gave final approval of the manuscript: JK, YP and TR.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.