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Tangier disease. A histological and ultrastructural study.

P Dechelotte, B Kantelip, B V de Laguillaumie

    Pathology, Research and Practice
    |October 1, 1985
    PubMed
    Summary

    Tangier disease, a lipid metabolism disorder, involves cholesterol ester accumulation in macrophages. This case presented typical symptoms but had a rapid, fatal outcome due to widespread tissue storage.

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    Area of Science:

    • Biochemistry
    • Pathology
    • Genetics

    Background:

    • Tangier disease is a rare inherited disorder of lipid metabolism.
    • It is characterized by a severe deficiency of high-density lipoproteins (HDL).
    • This leads to the accumulation of cholesteryl esters in various tissues.

    Observation:

    • A case of Tangier disease with typical clinical and biological features is presented.
    • Enlarged liver and spleen, voluminous tonsils, low alpha-lipoproteins and cholesterol, and high triglycerides were observed.
    • Histological and ultrastructural studies revealed widespread cholesterol ester deposition in the Mononuclear Phagocyte System.

    Findings:

    • Foamy histiocytes containing lipid deposits were identified via specific staining.
    • Ultrastructural analysis showed intracytoplasmic, membrane-unbounded, and confluent vacuoles.

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  • This particular case exhibited a rapid and fatal clinical course, differing from previously reported instances.

    • Implications:

    • This case highlights the severe pathological consequences of cholesteryl ester accumulation in Tangier disease.
    • Understanding the ultrastructural basis of lipid storage is crucial for disease progression insights.
    • The rapid fatality underscores the potential severity and variability in clinical presentation of Tangier disease.