LCAT deficiency is a rare inherited disorder that affects the body's ability to process fats. It is caused by a deficiency of the enzyme lecithin-cholesterol acyltransferase (LCAT). People with LCAT deficiency have abnormally low levels of high-density lipoprotein (HDL) cholesterol, which can lead to an increased risk of heart disease. Symptoms of LCAT deficiency may include high levels of cholesterol in the blood, corneal opacities, and kidney problems. Treatment typically involves lifestyle changes, such as eating a healthy diet and exercising regularly, as well as medications to lower cholesterol levels.

The most common symptoms of LCAT deficiency include:

-High levels of cholesterol and triglycerides in the blood
-Low levels of high-density lipoprotein (HDL) cholesterol
-Foamy urine
-Corneal opacities (cloudy areas in the cornea of the eye)
-Abnormal red blood cells
-Enlarged spleen
-Kidney problems
-Fatty liver
-Atherosclerosis (hardening of the arteries)
-Heart attack or stroke
-Peripheral neuropathy (nerve damage in the arms and legs)
-Gout
-Skin lesions

LCAT deficiency is caused by mutations in the gene that codes for the enzyme lecithin-cholesterol acyltransferase (LCAT). These mutations can be inherited from a person's parents or can occur spontaneously. In some cases, the cause of LCAT deficiency is unknown.

The primary treatment for LCAT deficiency is supportive care, which includes lifestyle modifications such as a low-fat diet, regular exercise, and avoiding alcohol. Additionally, medications such as statins, fibrates, and omega-3 fatty acids may be prescribed to help reduce cholesterol levels. In some cases, plasma exchange may be recommended to reduce the amount of cholesterol in the blood. Finally, gene therapy is being studied as a potential treatment for LCAT deficiency.

The most common risk factor for LCAT deficiency is a family history of the disorder. Other risk factors include having a genetic mutation in the LCAT gene, being of Ashkenazi Jewish descent, and having a history of kidney disease.

There is currently no cure for LCAT deficiency. Treatment focuses on managing the symptoms and preventing complications. Medications such as statins, fibrates, and omega-3 fatty acids may be prescribed to reduce cholesterol levels and reduce the risk of heart disease. Other treatments may include lifestyle changes, such as a low-fat diet and regular exercise.