A case of abdominal pain with dyslipidemia: difficulties diagnosing cholesterol ester storage disease

S.J. Cameron, U. Daimee, R.C. Block

Department of Medicine, Division of Cardiology, University of Rochester School of Medicine and Dentistry, Rochester, New York, NY, USA. Robert_block@urmc.rochester.edu

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• Metabolism

Cholesterol ester storage disease is an exceptionally rare dyslipidemia with less than 150 cases reported in the medical literature. The diagnosis of Cholesterol Ester Storage Disease is often missed by virtue of the fact that the symptoms mimic both inborn metabolic defects and hepatic steatosis. Patients with Cholesterol Ester Storage Disease usually present with atypical complaints including abdominal pain from altered gut motility. Blood analysis typically reveals abnormal liver function tests with coincident dyslipidemia.

We present a case of a young woman with Cholesterol Ester Storage Disease who was followed over two decades. We discuss issues common to her initial protracted diagnosis with management options over time.

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