Gene locus for apolipoprotein E: chromosome 19
Clinical features:
(1) Most reported cases are in patients of Asian descent.
(2) Most patients are males.
(3) Some cases area familial.
(4) The patient may present with:
(4a) proteinuria, often with the nephrotic syndrome
(4b) hypertension
(5) The patient gradually progresses to renal failure.
Renal biopsy shows:
(1) Lipoprotein thrombi are seen within the lumen of glomerular capillaries.
(2) The thrombi stain positively with Oil red O or Sudan III
(3) Some patients show IgA nephropathy.
Laboratory testing shows increased levels of apolipoprotein E.
(1) Some patients have elevated serum apolipoprotein E2.
(2) Other patients have elevated serum levels of apolipoprotein E3.
(3) Some patients have type III hyperliproteinemia with elevated serum apolipoprotein E2 or heterozygosity of apolipoprotein E2/E3.
(4) Rare patients have elevated serum levels of apolipoprotein E4.
(5) Some patients show mutations in apolipoprotein E.
