Lecithin cholesterol acyltransferase (LCAT) deficiency is a genetic disorder that affects the body’s ability to process cholesterol. It is characterized by cloudiness of the clear front surface of the eye (corneal opacities), a shortage of red blood cells (hemolytic anemia), and kidney failure. Familial LCAT deficiency is one of two types of LCAT deficiency; the other type of LCAT deficiency is fish-eye disease. Both types of LCAT deficiency are caused by genetic changes in the LCAT gene and are inherited in an autosomal recessive manner.

Fewer than 1000 people in the US have this disease and we are talking to Dr. Marina Cuchel from University of Pennsylvania to understand the condition better. We will be touching upon various aspects of the disease not limited to symptoms, diagnosis, treatment and management.