LCAT deficiency

LCAT deficiency: Description, Causes and Risk Factors: A rare condition characterized by corneal opacities, hemolytic anemia, proteinuria, renal insufficiency, and premature atherosclerosis, and very low levels of lecithin-cholesterol acyltransferase (LCAT) activity; results in accumulation of unesterfied cholesterol in plasma and tissues. LCAT deficiencyLecithin-cholesterol acyltransferase (LCAT) is an enzyme principally secreted by the liver into the circulation where it esterifies cholesterol and plays a key role in high density lipoprotein (HDL) metabolism. In familial and acquired (liver disease) LCAT deficiency, the failure to esterify cholesterol causes many cellular and metabolic disturbances. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyzes the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body, e.g. in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations. To date, more than 85 mutations in the LCAT gene have been identified. LCAT deficiency follows an autosomal recessive pattern of inheritance. Prevalence of LCAT deficiency is unknown. About 125 cases have been reported to date Worldwide. Most of the cases are from Norway, Japan, central Asia, and eastern Canada. Symptoms: Clinical characteristics of familial LCAT deficiency include the following: Corneal opacities (papilledema).
  • Signs of renal insufficiency, including hypertension.
  • Signs of atherosclerosis in some cases.
  • Xanthelasma (may be seen in end-stage disease).
  • Hepatomegaly, splenomegaly, and lymphadenopathy - Generally, these are not present, despite the accumulation of lipid-laden foam cells.
Diagnosis: Lab findings in familial LCAT deficiency include the following: Complete blood count (CBC) - Normochromic normocytic anemia with anisopoikilocytosis, target cells, stomatocytes, and hematologic evidence of hemolysis may be present.
  • Urinalysis - Proteinuria is commonly detected during the second or third decade of life; less common findings include hyaline and granular casts and red blood cells.
  • Progressive renal insufficiency - This occurs in some patients; laboratory evidence for progressive renal insufficiency includes increased plasma blood urea nitrogen (BUN), increased plasma creatinine, and decreased creatinine clearance.
  • Low concentrations of HDL cholesterol (generally < 10mg/dL).
  • High concentrations of plasma unesterified cholesterol.
  • Low concentrations of plasma cholesterol ester.
  • Elevated very low-density lipoprotein (VLDL) and triglyceride levels.
  • Negligible plasma LCAT activity - Plasma fails to esterify radioactive cholesterol in exogenous apo A-I-containing liposomes.
  • Negligible plasma cholesterol esterification rate - Plasma fails to esterify radioactive cholesterol in endogenous lipoproteins.
A definitive diagnosis of familial LCAT deficiency would require mutational analysis of the LCAT gene and a functional analysis of the mutated gene product. Treatment: Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated. Renal replacement by dialysis is necessary in patients who develop kidney failure. LCAT gene therapy or liver transplantation, kidney transplant, corneal transplant theoretically would be a treatment of choice to correct the underlying pathophysiology. Short-term whole blood or plasma transfusion has been tried to replace the LCAT enzyme in some patients with familial LCAT deficiency, but it did not correct anemia, proteinuria, or lipoprotein abnormalities. NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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