What is the morbidity and mortality associated with 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

The major morbidity and mortality in familial LCAT deficiency is related to renal failure, with proteinuria manifesting in childhood and end-stage renal disease in adulthood, requiring renal replacement. [14, 15] In fish eye disease, the major morbidity is visual impairment from corneal opacities.

Although some documented cases of premature atherosclerosis have been reported in individuals with these diseases, premature atherosclerosis remains a controversial topic. [16, 17, 18] Ossoli et al reviewed several studies on the role of LCAT in atherosclerosis. They concluded that the available data is contradictory, but it clearly supported the concept that reduced plasma LCAT concentrations are not necessarily associated with increased atherosclerosis, despite the low HDL-C levels. They speculated that the preserved macrophage cholesterol removal associated with decreased LCAT function may be the reason why atherogenesis is not increased in these patients. [4]


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