First-order test in the diagnosis of lecithin-cholesterol acyltransferase deficiency
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The phospholipids comprise about 1/3 of the total lipids in serum. These consist in a large part of a lipid, phosphatidylcholine (formerly lecithin), in which 1 of the glycerol carbons is esterified with choline phosphate. A major step in lipoprotein particle remodeling results from lecithin-cholesterol acyltransferase (LCAT) activity, which normally transesterifies free cholesterol with fatty acids derived from phosphatidylcholine. LCAT deficiency results in a lack of remodeling of primary lipoprotein particles, affecting eventual cholesterol uptake and elimination. In cases of deficiency of LCAT, the concentration of lecithin in the serum are increased several-fold.
Clinical findings in LCAT deficiency include corneal opacities, anemia, and frequently, proteinuria. The disorder is inherited as an autosomal recessive trait. Early atherosclerosis develops in many individuals with this disorder.
In addition, sphingomyelin normally comprises about 5% to 20% of the total phospholipids of serum. In Niemann-Pick Type A and B diseases, sphingomyelin accumulates in visceral and neural tissues and may become increased in the serum.
Other disorders involving alterations of the concentration, composition, and/or lipoprotein distribution include: abeta- or hypobetalipoproteinemia, Tangier disease, or fish eye disease.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
Reference values have not been established for patients who are <16 years of age.
Elevated in cases of lecithin-cholesterol acyltransferase deficiency deficiency due to elevations of lecithin
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Analyses of disorders mentioned are complex. Specialized additional testing may be required.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Baehorik PS, Levy RI, Rifkind BM: Lipids and dyslipoproteinemia. In Clinical Diagnosis and Management by Laboratory Methods. 18th Edition. Edited by JB Henry. Philadelphia, WB Saunders Company, 1991, p 198
2. Norum KR, Gjone E, Glomset JA: Familial lecithin: cholesterol acyltransferase deficiency, including fish eye disease. In The Metabolic Basis of Inherited Disease. Sixth Edition. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw-Hill Book Company, 1989, pp 1181-1194