Pathophysiology
disease of lipid metabolism marked chiefly by accelerated turnover of HDL
Signs and Symptoms
1) enlarged orange-colored tonsils 2) hepatosplenomegaly 3) defects in bowel mucosa 4) corneal opacities 5) variable peripheral neuropathy
Characteristic Test Findings
Laboratory – 1) extremely low levels of HDL (< 5 mg/dL) 2) very low levels of apoprotein A-I3 3) triglyceride levels are normal to slightly elevated
Histology/Gross Pathology
1) significant cholesterol buildup in Schwann cells 2) fatty liver
Associated Conditions
disagreement exists as to whether there is acclerated atherosclerotic disease, but a majority of clinicians believe this association exists
Biochemistry
1) defect occurs in gene that encodes cassette protein 1 (ABC transporter) 2) this protein binds ATP and enhances efflux of cholesterol from macrophages and other cells
Inheritance/Epidemiology
onset is in childhood
Tips for USMLE
mnemonic – tangerine tonsils = Tangier disease
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