Lecithin Cholesterol Acyltransferase Deficiency
Sequencing of the LCAT gene
|Lab method:||Sanger sequencing|
|Specimen requirements:||2-4 ml of blood with anticoagulant EDTA
700 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
|Ordering information:||Go to online ordering or download sample submission form|
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Testing of at-risk family members
3. Genetic counseling
Lecithin cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive disorder with prevalence below 1:1,000,000. Mutations in both alleles of LCAT gene result in two autosomal recessive forms of LCAT deficiency, familial LCAT deficiency (FLD), and fish eye disease (FED). Patients with LCAT have extremely low plasma levels of HDL cholesterol; plasma LDL cholesterol and triglyceride levels are widely variable. Many manifestations of the disorder, including corneal opacities, anemia, and renal disease may be developed by early adulthood.
Patients with FLD suffer from a complete lack of LCAT activity, whereas patients with FED have a partial reduction in LCAT activity.
The role of LCAT in the pathogenesis of atherosclerosis has been controversial based on the current research. Considering the low HDL cholesterol levels and often increased triglyceride levels, it is expected that carriers of LCAT mutations would be at increased risk for developing cardiovascular disease. However, many patients do not show a clearly increased risk for developing clinically apparent disease.
Carlson LA and Philipson B. 1979. Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinæmia. Lancet. 2: 922–924.
Kunnen S and Van Eck M 2012. Lecithin:cholesterol acyltransferase: old friend or foe in atherosclerosis? J Lipid Res. 2012 Sep; 53(9): 1783–1799. doi: 10.1194/jlr.R024513
Saeedi et al 2015. A Review on Lecithin:cholesterol Acyltransferase Deficiency. Clin Biochem 2015 May;48(7-8):472-5. doi: 10.1016/j.clinbiochem.2014.08.014.Epub 2014 Aug 27.
Santamarina-Fojo S et al 2001. Lecithin cholesterol acyltransferase deficiency and fish eye disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. New York: McGraw-Hill; 2001. p. 2817–33.
Shamburek RDet al 2016 Familial Lecithin:cholesterol Acyltransferase Deficiency: First-in-human Treatment With Enzyme Replacement. J Clin Lipidol Mar-Apr 2016;10(2):356-67. doi: 10.1016/j.jacl.2015.12.007. Epub 2015 Dec 23.