Familial LCAT deficiency

What causes familial LCAT deficiency?

Familial LCAT deficiency is a genetic disorder caused by mutations in the LCAT gene. The LCAT gene provides instructions for making an enzyme (protein) called lecithin-cholesterol acyltransferase (LCAT). This enzyme is involved in removing cholesterol from the blood and tissues by helping it attach to a group of proteins, called lipoproteins. The cholesterol is then transported to the liver and sent to other tissues in the body or removed from the body.

The LCAT enzyme has two major functions: alpha and beta LCAT activity. Alpha- LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL), while beta-LCAT activity helps attach cholesterol to other lipoproteins called low-density lipoprotein (LDL) and very low-density lipoprotein (VLDL).

In familial LCAT deficiency, LCAT gene mutations either prevent the production of the LCAT enzyme or impair both the alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. This is known as a complete LCAT deficiency. This likely leads to a buildup (deposit) of cholesterol in tissues throughout the body, including the corneas and kidneys.

Last updated on 05-01-20

How is familial LCAT deficiency inherited?

Familial LCAT deficiency is inherited in an autosomal recessive manner. This means that to have the deficiency, a person must have a mutation in both copies of the gene associated with the deficiency in each cell. People with familial LCAT deficiency inherit one mutated copy of the gene from each parent; each parent is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% chance to have familial LCAT deficiency
  • 50% chance to not have familial LCAT deficiency AND to only be a carrier like each parent
  • 25% chance to not have familial LCAT deficiency AND __ not be a carrier

Last updated on 05-01-20

What is familial LCAT deficiency?

Familial LCAT deficiency is a genetic disorder that affects the body's ability to process (metabolize) 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. Symptoms usually appear in adulthood and may also include enlargement of the liver (hepatomegaly), spleen (splenomegaly), and lymph nodes (lymphadenopathy), as well as an accumulation of fat in the artery walls (atherosclerosis).
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 mutations in the LCAT gene and are inherited in an autosomal recessive manner. Although there is no specific treatment or cure for familial LCAT deficiency, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.

Last updated on 05-01-20

What is the long-term outlook for familial LCAT deficiency?

The long-term outlook (prognosis) for people with familial LCAT deficiency varies depending on the severity of associated signs and symptoms. The most serious complication of familial LCAT deficiency is kidney failure.

Last updated on 05-01-20

How might familial LCAT deficiency be treated?

Although there is no cure for familial LCAT deficiency, there are ways to manage the signs and symptoms including:

Last updated on 05-01-20

Name: National Kidney Foundation 30 East 33rd Street
New York, NY, 10016, United States
Phone: 212-889-2210 Toll Free: 800-622-9010 Fax : 212-689-9261 Email: info@kidney.org Url: https://www.kidney.org/
Name: The Kidney Foundation of Canada 700-15 Gervais Drive Toronto Ontario M3C 1Y8
Canada
Phone: 416-445-0373 Toll Free: 800-387-4474 Fax : 416-445-7440 Email: kidney@kidney.on.ca Url: http://www.kidney.on.ca
Name: American Kidney Fund, Inc. 6110 Executive Boulevard Suite 1010
Rockville, MD, 20852, United States
Phone: 301-881-3052 Toll Free: 866-300-2900 Email: helpline@kidneyfund.org Url: http://www.kidneyfund.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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