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Lysosomal acid lipase deficiency (LAL-D)

What is lysosomal acid lipase deficiency (LAL-D)?

LAL is a protein made by the liver that normally circulates in the blood. It assists with the breakdown of fats in the body.
A deficiency of this protein causes an accumulation of lipids, particularly cholesterol esters and triglycerides, in the liver, heart and other organs, which disrupts their functionality.
This genetic disease causes liver complications and high cholesterol levels in the blood.

How is it transmitted?

It is a genetic disease due to the LIPA gene mutation. It is transmitted in an autosomal recessive manner, i.e. the gene responsible for the disease is recessive.
In order for the disease to manifest itself, a child must have inherited two defective (recessive) genes, one from each parent.
If the parents are not sick, they are considered to be “carriers” of this recessive gene.

What are the symptoms?

It can affect people of all ages, from birth to adulthood.
In infants, the symptoms are severe and occur in the first few months: severe malabsorption (diarrhea), growth delays, fibrosis and livercirrhosis.
In children, symptoms usually appear around the age of five.

In the liver, an increase in the number of liver enzymes is seen, as well as hepatomegaly (increased liver volume), which can progress to fibrosis, cirrhosis and liver failure.
At the cardiovascular level, an increase in bad cholesterol (LDL) is seen, as well as a decrease in the level of good cholesterol (HDL) and accelerated atherosclerosis.

How is it diagnosed?

As is often the case with other rare diseases, diagnosis is frequently delayed because LAL deficiency is often confused with other more common diseases.
Since people with LAL deficiency have very little or no LAL enzymes in the blood, it can be diagnosed using an enzyme blood test.

What are the treatments?

There is a treatment called sebelipase-alpha that has been proven in both early presentation in newborns and older children.

What is the prognosis?

If the disease occurs in an infant, it can be extremely severe or even fatal.
If the disease occurs later, it is less severe. In some cases, liver transplantation can be a treatment option.