Lecithin Cholesterol Acyltransferase Deficiency
What else is it called?
- Complete LCAT deficiency
- Familial LCAT deficiency
- LCAT deficiency
- Lecithin acyltransferase deficiency
- Norum disease
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What causes it?
The disorder is caused by a problem in the LCAT gene. This gene produces the LCAT enzyme which removes cholesterol from the blood and tissue then transports it to the liver. This process is needed to remove excess cholesterol from the body, or to redistribute it to other parts of the body for use.
If you have a problem in the LCAT gene, you will not produce enough of the LCAT enzyme. Therefore, you will be unable to move cholesterol from your system efficiently, and this causes fatty deposits to build up throughout the body, particularly in the eyes (corneas), liver, kidneys, and arteries.
How common is it?
Lecithin Cholesterol Acyltransferase Deficiency is an extremely rare disorder. Around 70 cases have been confirmed worldwide, many of which are from Europe, Japan, Canada, or Australia.
What are the signs and symptoms?
Symptoms of this disorder typically begin to show in late adolescence or early adulthood, and they can get progressively worse if left untreated. The most common symptoms are:
- Cholesterol build-up on the corneas making them cloudy and causing severe loss of vision
- Kidney disease
- Pale complexion, weakness, fatigue, and low red blood cell count (haemolytic anaemia)
- Enlarged liver, spleen, or lymph nodes
- Fatty deposits in the arteries
Life expectancy for this disorder depends upon the severity of the symptoms. Kidney failure is a very serious concern for people with Lecithin Cholesterol Acyltransferase Deficiency and can be life-threatening.
How is it diagnosed?
Lecithin Cholesterol Acyltransferase Deficiency is diagnosed using a specialised blood test. You may also require a kidney biopsy, which involves inserting a needle through the skin to take a small sample of your kidney tissue. Genetic testing is required to confirm your diagnosis.
Similar diagnoses to this disorder include Fish Eye Disease (FED) and Tangier Disease.
Can it be treated?
Treatment for Lecithin Cholesterol Acyltransferase Deficiency focuses on managing the symptoms as there is currently no known cure. A balanced diet that is low in fat will help to reduce the effects of the disorder. A dietitian will support you to make nutritional choices that suit your needs. Any changes in your diet must be made in consultation with your dietitian. You may also be given supplements, particularly if you suffer from anaemia.
In more serious cases, you may require dialysis for kidney failure and possibly surgery such as a kidney transplant. Also, if your vision becomes severely reduced, you may be offered a corneal transplant.
Research into enzyme replacement therapy for the disorder is ongoing.
Do my family need to be tested?
Lecithin Cholesterol Acyltransferase Deficiency is inherited from both parents in an autosomal recessive inheritance pattern. This means that both parents are carriers of the disorder through their genes.
All genes come in pairs. Carriers of Lecithin Cholesterol Acyltransferase Deficiency have one working LCAT gene and one faulty gene. Children inherit one gene from each parent to make their pair. Whether you have Lecithin Cholesterol Acyltransferase Deficiency depends on the genes you inherit:
- There is a 50% chance that the child will inherit one faulty and one working gene, which means they will also be a carrier.
- There is a 25% chance that the child will inherit two working genes and not inherit or carry the faulty gene.
- There is a 25% chance that the child will inherit two faulty genes, which means they will have Lecithin Cholesterol Acyltransferase Deficiency.
If you think you, or somebody in your family, may have Lecithin Cholesterol Acyltransferase Deficiency, or that you may be a carrier, contact your medical team who may refer you for genetic testing.