Deepika vegiraju: Created page with "'''Other Names:''' FLD Norum disease Complete LCAT deficiency familial lecithin-cholesterol acyltransferase deficiency FLD LCAT deficiency lecithin acyltransferase deficiency..."

2020-08-09T06:40:47Z

Created page with "'''Other Names:''' FLD Norum disease Complete LCAT deficiency familial lecithin-cholesterol acyltransferase deficiency FLD LCAT deficiency lecithin acyltransferase deficiency..."

New page

'''Other Names:'''
FLD
Norum disease
Complete LCAT deficiency
familial lecithin-cholesterol acyltransferase deficiency
FLD
LCAT deficiency
lecithin acyltransferase deficiency
lecithin:cholesterol acyltransferase 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]].
Familial LCAT deficiency is one of two types of LCAT deficiency; the other type of LCAT deficiency is fish-eye disease.

<youtube>
title='''{{PAGENAME}}'''
movie_url=http://www.youtube.com/v/k0SaJyzhicA
&rel=1
embed_source_url=http://www.youtube.com/v/k0SaJyzhicA
&rel=1
wrap = yes
width=750
height=600
</youtube>

== '''Epidemiology''' ==
Familial LCAT deficiency is a rare disorder. Approximately 70 cases have been reported in the medical literature.

== '''Cause''' ==
Familial LCAT deficiency is caused by mutations in the '''LCAT gene'''. This gene provides instructions for making an enzyme called '''lecithin-cholesterol acyltransferase''' (LCAT).

The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called [[lipoproteins]], which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called [[high-density lipoprotein]] (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and [[low-density lipoprotein]] (LDL).

LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. Impairment of this mechanism for reducing cholesterol in the body '''leads to cholesterol deposits''' in the [[corneas]], [[kidneys]], and other tissues and organs. LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas.

== '''Inheritance''' ==
[[File:Autorecessive.svg|thumb|right|Autosomal recessive inheritance, a 25% chance]]
This condition is inherited in an [[autosomal recessive]] pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

== '''Symptoms''' ==
The signs and symptoms of familial LCAT deficiency are thought to be caused by a buildup of [[cholesterol]] in different areas of the body. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals.

The earliest symptom of familial LCAT deficiency, typically occurring in childhood, is cloudiness in the front surface of the eye ([[cornea]]), known as [[corneal opacities]].

Kidney disease, sometimes leading to kidney failure, usually begins in adolescence or early adulthood. Other symptoms often found in individuals with LCAT deficiency include:
* [[Hemolytic anemia]] (shortage of red blood cells)
* Enlargement of the liver ([[hepatomegaly]]), spleen ([[splenomegaly]]), or lymph nodes ([[lymphadenopathy]])
* Accumulation of fatty deposits in the artery walls ([[atherosclerosis]])
* Swelling of the [[optic nerve]] ([[papilledema]])
* A buildup of fat under the surface of the skin ([[xanthelasma]])
* Symptoms of kidney failure, such as high blood pressure

== '''Diagnosis''' ==
'''CBC:''' normochromic normocytic anemia
'''Urinalysis:''' [[proteinuria]] in young adults (suggestive of kidney failure)
'''Blood Chemistries:''' elevated [[blood urea]] nitrogen (BUN) and [[creatinine]] (suggestive of kidney failure)
'''Lipid Panel:''' low [[high-density lipoprotein]] (HDL) < 10 mg/dL, elevated [[very low-density lipoprotein]] (VLDL) and [[triglycerides]], high [[plasma]] [[unesterified cholesterol]], and low plasma cholesterol ester
'''Plasma LCAT activity: '''decreased (determined by decreased ability to esterify radioactive cholesterol in exogenous lipoproteins)

== '''Treatment''' ==
Although there is no cure for familial LCAT deficiency, there are ways to manage the signs and symptoms including:
* [[Dialysis]] and [[kidney transplant]] as needed for individuals who develop kidney failure
* [[Corneal transplantation]] for individuals with corneal opacities and severely reduced vision
* Dietary restriction of fat intake
* Exercise
* Medications to lower cholesterol ([[statins]])
* Blood pressure medications ([[angiotensin]] receptor blockers)

== '''Prognosis''' ==
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.
{{Lipidemias}}

[[Category:Lipid metabolism disorders]]
[[Category:Autosomal recessive disorders]]
[[Category:Diseases of the eye and adnexa]]
[[Category:Disorders of sclera and cornea]]
{{rarediseases}}
{{stub}}

Familial LCAT deficiency - Revision history

Deepika vegiraju: Created page with "'''Other Names:''' FLD Norum disease Complete LCAT deficiency familial lecithin-cholesterol acyltransferase deficiency FLD LCAT deficiency lecithin acyltransferase deficiency..."