Acid Lipase Disease
About acid lipase disease
When the enzyme that’s needed to break down certain fats that are usually digested by the body is missing or lacking, acid lipase disease occurs. The result is a toxic build-up of these fats in the body’s tissues and cells. These fatty substances are known as lipids and include cholesterol, waxes and oils. There are two rare lipid storage diseases that can occur in childhood and are caused as a result of a deficient enzyme lysosomal acid lipase. These are:
- Cholesterol Ester Storage Disease
- Wolman’s Disease
What is the prognosis?
Cholesterol Ester Storage Disease: the onset varies, and sufferers of the disease may live into adulthood.
Wolman’s disease: Infants suffering from Wolman’s Disease usually die by the age of one due to malnutrition.
Cholesterol Ester Storage Disease (CESD)
CESD is exceptionally rare, and occurs as a result of the body’s blood cells and lymphoid tissue storing cholesterol esters (usually a transport form of cholesterol that carries out waste and brings nutrients into the cells) and triglycerides (a chemical form that houses fats in the body). When the disease occurs in children, an enlarged liver is developed, and this can lead to chronic liver failure and cirrhosis before the child reaches adulthood. Other symptoms that can develop in children include:
- Calcium deposits in the adrenal glands, which causes them to harden
The onset of CESD varies, and in some cases the disorder may not be diagnosed until the child reaches adulthood.
Wolman’s disease is an autosomal recessive disorder, and is characterised by the build-up of triglycerides and cholesterol esters. Infants with Wolman’s disease have no symptoms when they are born, but quickly develop the following symptoms:
- Progressive mental deterioration
- Low muscle tone
- Gastrointestinal problems
- Calcium deposits in the adrenal glands
- Enlarged liver
- Grossly enlarged spleen
- Distended abdomen
This disorder can affect both male and female infants.
CESD is a less severe form of Wolman’s disease, and usually has a later onset.
How are CESD and Wolman’s disease treated?
There is no one specific treatment for CESD or Wolman’s disease. However, there are certain drugs that can be given to aid adrenal gland production, and it is essential that children are fed intravenously. It is beneficial for people with CESD to eat a low cholesterol diet.