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Lecithin cholesterol acyltransferase deficiency

 

Lecithin cholesterol acyltransferase deficiency

Lecithin cholesterol acyltransferase deficiency
Classification and external resources
ICD-10 E78.6
ICD-9-CM 272.5
OMIM 245900 136120
DiseasesDB 7343
eMedicine med/1270
MeSH D007863

Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is disorder of lipoprotein metabolism.[1]

Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins.

Contents

  • Types 1
  • Presentation 2
  • Mortality and morbidity 3
  • Signs and symptoms 4
  • Diagnosis 5
  • References 6

Types

The disease has two forms:[2]

  • familial LCAT deficiency in which there is complete LCAT deficiency.
  • fish eye disease in which there is a partial deficiency.

Both are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.

Presentation

A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. Cholesterol effluxes from cells as free cholesterol and is transported in HDL as esterified cholesterol. LCAT is the enzyme that esterifies the free cholesterol on HDL to cholesterol ester and allows the maturation of HDL. LCAT deficiency does not allow for HDL maturation resulting in its rapid catabolism of circulating apoA-1 and apoA-2. The remaining form of HDL resembles nascent HDL. Symptoms of the familial form include diffuse corneal opacities, target cell hemolytic anemia and proteinuria with renal failure. Fish eye disease only causes progressive corneal opacification.

Mortality and morbidity

Renal failure is the major cause of morbidity and mortality in complete LCAT deficiency, while in partial deficiency (fish eye disease) major cause for morbidity is visual impairment due to corneal opacity. These patients have low HDL cholesterol but surprisingly premature atherosclerosis is not seen. However, there are some reported cases.

Signs and symptoms

In complete LCAT deficiency patients may present with Anemia, Corneal opacities, Hepatosplenomegaly, renal insufficiency while in partial deficiency (fish eye disease) corneal opacities is the main finding with hepatosplenomegaly.

Diagnosis

Battery of tests are required such as CBC for anemia, kidney functions, urine for proteinuria, Lipid profile, these patients have very low HDL cholesterol and high triglyceride level, High free cholesterol and low cholesterol esters levels. However definitive diagnosis rest with LCAT gene analysis for mutation and functional activity.

References

  1. ^ Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J (February 1997). "The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes". J. Lipid Res. 38 (2): 191–205.  
  2. ^ Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G, Busnach G, Frasc� 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 (Sep 2005). "The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.". Arteriosclerosis, thrombosis, and vascular biology 25 (9): 1972–1978.  
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