SNP Shot: Genomic Insights

Complete LCAT deficiency is a condition that mainly impacts the eyes and kidneys.

In individuals with complete LCAT deficiency, the corneas, the clear outer layer of the eyes, slowly become opaque. This cloudiness, typically appearing in early childhood, is caused by small, gray cholesterol deposits (opacities) forming on the corneas. Cholesterol, a fat-like substance essential for bodily functions but harmful in excess, is produced by the body and consumed through animal-derived foods. As the deficiency progresses, the corneal clouding intensifies, potentially causing significant vision impairment.

Kidney disease often develops in adolescents or young adults with complete LCAT deficiency. These kidney problems worsen over time and may lead to kidney failure. Affected individuals frequently also experience hemolytic anemia, a condition where red blood cells are prematurely destroyed (hemolysis), leading to a shortage of red blood cells (anemia). Anemia can result in symptoms such as pale skin, weakness, fatigue, and more severe health issues.

Some individuals with complete LCAT deficiency may also experience an enlarged liver (hepatomegaly), enlarged spleen (splenomegaly), enlarged lymph nodes (lymphadenopathy), or a buildup of fatty deposits in the arteries (atherosclerosis).

Inheritance:

Complete LCAT deficiency follows an autosomal recessive inheritance pattern. This means that both copies of the gene in each cell must have mutations for the condition to manifest. Each parent of a person with an autosomal recessive condition carries one copy of the mutated gene, but usually does not exhibit signs or symptoms of the condition themselves.