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[Tangier-disease (author's transl)].

G Assmann

    Klinische Wochenschrift
    |January 15, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Tangier disease is a rare lipid disorder causing low HDL cholesterol and cholesterol buildup in organs. This condition affects apoprotein A-I, crucial for high-density lipoprotein function and cholesterol transport.

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    Area of Science:

    • Lipid Metabolism Disorders
    • Genetic Diseases
    • Biochemistry

    Context:

    • Tangier disease is a rare autosomal recessive lipid transport disorder.
    • Characterized by absent high-density lipoproteins (HDL) and cholesteryl ester accumulation in tissues.
    • Only 25 cases have been documented, highlighting its rarity.

    Purpose:

    • To describe the clinical and biochemical characteristics of Tangier disease.
    • To discuss the potential pathogenetic mechanisms, focusing on apoprotein A-I abnormalities.
    • To explore the implications of absent HDL on cellular cholesterol metabolism.

    Summary:

    • Tangier disease presents with tonsilar hypertrophy, splenomegaly, and peripheral neuropathy.
    • Key plasma abnormalities include hypocholesterolemia, hypertriglyceridemia, and absent HDL.

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  • Reduced serum concentrations of apoprotein A-I and A-II are observed, with a potential structural defect in apoprotein A-I.

    • Impact:

    • Provides insights into the role of HDL in cholesterol homeostasis.
    • Suggests a potential link between apoprotein A-I structure and lipid transport.
    • Contributes to understanding rare genetic lipid disorders and their cellular mechanisms.