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Cholesterol ester storage disease and mesenteric lipodystrophy.

H P Dincsoy, D B Rolfes, C A McGraw

    American Journal of Clinical Pathology
    |February 1, 1984
    PubMed
    Summary
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    Cholesterol ester storage disease, a rare inherited lipid disorder, involves acid cholesteryl ester hydrolase deficiency. Autopsy of the oldest patient revealed unique lipid deposits and mesenteric lipodystrophy, prompting further research into potential associations.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pathology

    Background:

    • Cholesterol ester storage disease (CESD) is a rare inherited metabolic disorder characterized by acid cholesteryl ester hydrolase deficiency.
    • Only 15 cases have been documented globally, highlighting its rarity.

    Observation:

    • This report details the autopsy findings of the oldest known patient diagnosed with CESD.
    • Lipid accumulation presented as needle-shaped crystals in hepatocytes and autofluorescent granules in foam cells within hepatic portal triads, duodenum, and ovaries.

    Findings:

    • The patient's liver exhibited 16 times the normal cholesterol content, predominantly due to elevated cholesterol esters.
    • Severely deficient acid cholesteryl ester hydrolase activity was observed in the liver.
    • Mesenteric lipodystrophy was an additional, unique finding in this case.

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    Implications:

    • This case expands the understanding of CESD manifestations and lipid storage patterns.
    • The co-occurrence of CESD and mesenteric lipodystrophy raises questions about potential etiological links or independent pathologies.
    • Further investigation is warranted to explore the relationship between these rare conditions.