Thelansis

Lecithin-cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder characterized by notably low high-density lipoprotein (HDL) cholesterol levels. This phenotype is less severe compared to individuals with total LCAT deficiency. The observed distinctions between LCAT deficiency and fisheye disease are attributed to mutations in the LCAT gene. These mutations determine whether the gene encodes variants that fail to esterify HDL cholesterol and apoB-containing lipoproteins (leading to LCAT deficiency) or exclusively affect HDL. Clinical features of this disorder include corneal opacities, splenomegaly, normocytic normochromic anemia, low levels of HDL and α-lipoproteins, and elevated LDL levels. Fisheye disease can also manifest without anemia, splenomegaly, or renal complications. Likely, the accumulation of cholesterol-rich multilamellar particles, known as lipoprotein-X, in the plasma plays a role in the kidney's pathogenesis. Renal manifestations primarily ...

 Lecithin-cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder characterized by very low high-density lipoprotein (HDL) cholesterol levels but a remarkably variable and often low frequency of cardiovascular disease in carriers. The phenotype is milder than that seen in total LCAT deficiency. The phenotypic differences between LCAT deficiency and fisheye disease have been attributed to whether LCAT gene mutations encode variants that fail to esterify HDL cholesterol and apoB-containing lipoproteins (LCAT deficiency) or HDL only. The clinical characteristics include corneal opacities, splenomegaly, normocytic normochromic anemia, low HDL and α-lipoprotein levels, and elevated LDL levels. The fisheye disease also can exist without anemia, splenomegaly, or renal disease. Likely, the accumulation in plasma of a cholesterol-rich multilamellar particle called lipoprotein-X is pathogenic in the kidneys. Proteinuria, including nephrotic syndrome, progressive rena...