An increased risk of premature atherosclerosis in both familial LCAT deficiency and fish-eye disease is only modest. The clinical and biochemical features of LCAT deficiency and fish-eye disease are highly variable. Measurements of plasma LCAT activity and plasma cholesterol esterification rate, as well as genetic testing for LCAT gene mutations, are not routinely performed in most laboratories. Referrals to experts in lipoprotein research often are required to make a definite diagnosis. Medicine is a constantly changing science and not all therapies are clearly established.
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