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

作者：Cameron S J; Daimee U; Block R C^*

来源：European Review for Medical and Pharmacological Sciences, 2015, 19(14): 2628-2633.

• Cholesterol Ester Storage Disease (CESD)
• Lysosomal acid lipase (LAL) deficiency
• Low density lipoprotein (LDL)
• High density lipoprotein (HDL)
• Triglycerides (TG)
• Alanine aminotransferase (ALT)
• Aspartate aminotransferase (AST)
• Alkaline phosphatase (ALP)

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.

• 出版日期2015-7