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Genetics Home Reference: your guide to understanding genetic conditions
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Complete LCAT deficiency

Reviewed August 2013

What is complete LCAT deficiency?

Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.

In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision.

People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications.

Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).

How common is complete LCAT deficiency?

Complete LCAT deficiency is a rare disorder. Approximately 70 cases have been reported in the medical literature.

What genes are related to complete LCAT deficiency?

Complete LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT).

The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL).

LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol deposits in the corneas, kidneys, and other tissues and organs. LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas.

Related Gene(s)

Changes in this gene are associated with complete LCAT deficiency.

  • LCAT

How do people inherit complete LCAT deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of complete LCAT deficiency?

These resources address the diagnosis or management of complete LCAT deficiency and may include treatment providers.

  • Genetic Testing Registry: Norum disease (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0023195)
  • MedlinePlus Encyclopedia: Corneal Transplant (http://www.nlm.nih.gov/medlineplus/ency/article/003008.htm)
  • National Heart, Lung, and Blood Institute: How is Hemolytic Anemia Treated? (http://www.nhlbi.nih.gov/health/health-topics/topics/ha/treatment.html)
  • National Institutes of Diabetes and Digestive and Kidney Diseases: Kidney Failure -- Choosing a Treatment That's Right for You (http://kidney.niddk.nih.gov/kudiseases/pubs/choosingtreatment/)
  • Oregon Health and Science University: Corneal Dystrophy (http://www.ohsu.edu/xd/health/services/casey-eye/your-eyes/eye-disorders/cornea-disorders/corneal-dystrophy.cfm)
  • The Foundation of the American Academy of Ophthalmology: Corneal Transplants (http://www.eyecareamerica.org/eyecare/treatment/corneal-transplant/index.cfm)

You might also find information on the diagnosis or management of complete LCAT deficiency in Educational resources (http://www.ghr.nlm.nih.gov/condition/complete-lcat-deficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/complete-lcat-deficiency/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about complete LCAT deficiency?

You may find the following resources about complete LCAT deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for complete LCAT deficiency?

  • familial LCAT deficiency
  • familial lecithin-cholesterol acyltransferase deficiency
  • FLD
  • LCAT deficiency
  • lecithin acyltransferase deficiency
  • lecithin:cholesterol acyltransferase deficiency
  • Norum disease
  • Norum's disease

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about complete LCAT deficiency?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding complete LCAT deficiency?

anemia ; artery ; atherosclerosis ; autosomal ; autosomal recessive ; cell ; cholesterol ; deficiency ; enzyme ; familial ; gene ; HDL ; hemolysis ; hemolytic anemia ; inherited ; kidney ; LDL ; lipoprotein ; lymph ; recessive ; splenomegaly ; VLDL

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G, Busnach G, Frascà G, Gesualdo L, Gigante M, Lupattelli G, Montali A, Pizzolitto S, Rabbone I, Rolleri M, Ruotolo G, Sampietro T, Sessa A, Vaudo G, Cantafora A, Veglia F, Calandra S, Bertolini S, Franceschini G. The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arterioscler Thromb Vasc Biol. 2005 Sep;25(9):1972-8. Epub 2005 Jun 30. (http://www.ncbi.nlm.nih.gov/pubmed/15994445?dopt=Abstract)
  • Jahanzad I, Amoueian S, Attaranzadeh A. Familial lecithin-cholesterol acyltransferase deficiency. Arch Iran Med. 2009 Mar;12(2):179-81. (http://www.ncbi.nlm.nih.gov/pubmed/19249891?dopt=Abstract)
  • Roshan B, Ganda OP, Desilva R, Ganim RB, Ward E, Haessler SD, Polisecki EY, Asztalos BF, Schaefer EJ. Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature. J Clin Lipidol. 2011 Nov-Dec;5(6):493-9. doi: 10.1016/j.jacl.2011.07.002. Epub 2011 Aug 23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22108153?dopt=Abstract)
  • Savel J, Lafitte M, Pucheu Y, Pradeau V, Tabarin A, Couffinhal T. Very low levels of HDL cholesterol and atherosclerosis, a variable relationship--a review of LCAT deficiency. Vasc Health Risk Manag. 2012;8:357-61. doi: 10.2147/VHRM.S29985. Epub 2012 Jun 5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22701329?dopt=Abstract)
  • Shoji K, Morita H, Ishigaki Y, Rivard CJ, Takayasu M, Nakayama K, Nakayama T, Inoue Y, Ayaki M, Yoshimura A. Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review. Clin Nephrol. 2011 Oct;76(4):323-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21955868?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2013
Published: September 29, 2014