What are the clinical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency?

Updated: Oct 16, 2019
  • Author: Catherine Anastasopoulou, MD, PhD, FACE; Chief Editor: George T Griffing, MD  more...
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Answer

Answer

The clinical manifestations of LCAT deficiency are likely due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified (free) cholesterol in certain tissues, such as the cornea, kidneys, and erythrocytes. Patients may present with HDL deficiency, corneal opacification, hemolytic anemia, hypertension, hypertriglyceridemia, and proteinuria that typically progresses to end-stage renal disease (ESRD) by age 40–50 years; ESRD is the primary cause of morbidity and mortality. [1] LpX, an abnormal multivesicular-like lipoprotein that accumulates in patients with FLD, contributes to renal disease. [4] Fish eye disease is characterized by partial reduction of LCAT and only manifests as progressive corneal opacification.


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