- Signs of renal insufficiency, including hypertension.
- Signs of atherosclerosis in some cases.
- Xanthelasma (may be seen in end-stage disease).
- Hepatomegaly, splenomegaly, and lymphadenopathy - Generally, these are not present, despite the accumulation of lipid-laden foam cells.
- Urinalysis - Proteinuria is commonly detected during the second or third decade of life; less common findings include hyaline and granular casts and red blood cells.
- Progressive renal insufficiency - This occurs in some patients; laboratory evidence for progressive renal insufficiency includes increased plasma blood urea nitrogen (BUN), increased plasma creatinine, and decreased creatinine clearance.
- Low concentrations of HDL cholesterol (generally < 10mg/dL).
- High concentrations of plasma unesterified cholesterol.
- Low concentrations of plasma cholesterol ester.
- Elevated very low-density lipoprotein (VLDL) and triglyceride levels.
- Negligible plasma LCAT activity - Plasma fails to esterify radioactive cholesterol in exogenous apo A-I-containing liposomes.
- Negligible plasma cholesterol esterification rate - Plasma fails to esterify radioactive cholesterol in endogenous lipoproteins.
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