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[Hyperlipoproteinemia type III with apolipoprotein E phenotype 2/2].

R Engst

    Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
    |November 1, 1985
    PubMed
    Summary
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    This case report details a patient with hyperlipoproteinemia type III successfully treated with probucol. The medication significantly reduced cholesterol and improved xanthoma symptoms without adverse effects.

    Area of Science:

    • Biochemistry
    • Clinical Medicine
    • Pharmacology

    Background:

    • Hyperlipoproteinemia type III (HLPP III) is a rare genetic disorder characterized by lipid metabolism abnormalities.
    • Patients often present with xanthomas, hypercholesterolemia, and hypertriglyceridemia.
    • Apolipoprotein E (apo E) deficiency, specifically apo E-3, is implicated in the pathogenesis of HLPP III.

    Observation:

    • The patient exhibited hallmark signs of HLPP III, including tuberous xanthomas, xanthochromia striata palmaris, and a "broad-beta" band on electrophoresis.
    • Diagnostic investigations using isoelectric focusing and density gradient ultracentrifugation confirmed HLPP III with apo E-3 deficiency.
    • Clinical presentation included severe hypercholesterolemia, hypertriglyceridemia, and chylomicronemia.

    Findings:

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    • Probucol therapy, initiated in June 1983, led to a remarkable reduction in serum cholesterol by up to 45%.
    • Significant regression of xanthochromia striata palmaris and initial xanthoma regression were observed.
    • High-density lipoprotein (HDL) cholesterol levels did not increase, and no adverse side effects were reported during probucol treatment.

    Implications:

    • This case highlights probucol as an effective therapeutic agent for managing hyperlipoproteinemia type III.
    • The findings suggest that probucol can improve clinical manifestations of HLPP III, such as xanthomas, without necessitating dietary changes.
    • Further research into probucol's long-term efficacy and safety in HLPP III patients is warranted.