Wallach's Interpretation of Diagnostic Tests: Pathways to Arriving at a Clinical Diagnosis (73 page)

   Laboratory Findings

   Plasma levels of apo A-I and apo A-II are extremely low.

   In homozygotes, HDL-C is usually <10 mg/dL and apo A-I is usually <5 mg/dL.

   In heterozygotes, HDL-C and apo A-I are approximately 50% of normal. Serum TC (<100 mg/dL), LDL-C, and phospholipids are decreased; TG = 100–250 mg/dL. Pre-β-lipoprotein is absent.

LECITHIN
–
CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (FAMILIAL)

   Definition

   Lecithin–cholesterol acyltransferase deficiency is a very rare autosomal recessive disorder of adults.

   It is associated with premature CAD, corneal opacities, and glomerulosclerosis.

   Laboratory Findings

   Serum TC is normal but cholesterol esters are virtually absent. Plasma free cholesterol is extremely increased. HDL-C is low.

   Normochromic anemia with large RBCs that are frequently target cells.

   Proteinuria

   High HDL-C Lipidemia

   High HDL-C is a rare autosomal recessive disorder causing cholesteryl ester transfer protein gene defects.