Lysosomal acid lipase deficiency (LAL-D)

What happens in this disease?

An enzyme called lysosomal acid lipase is missing in the cells. This enzyme breaks down fats and cholesterol. When it is missing, fats build up in the cells, mostly in the liver. The liver grows larger and can harden over time.

Which symptoms can occur?

The disease has two forms. The severe form begins in infancy, in the first weeks, and is the rarest. The milder form begins in childhood or adulthood.

• Enlarged liver (in almost all with the later form)
• Enlarged spleen (common)
• Vomiting, diarrhea and fatty stools
• Poor weight gain (in infancy)
• Yellowing of the skin and eyes (in infancy)
• High cholesterol and liver values in the blood
• Hardening of the liver, called cirrhosis (sometimes)

How is it diagnosed?

Blood tests may show high liver values and cholesterol. Enzyme activity is measured in the blood; a dried blood spot can also be used. The diagnosis is confirmed with a genetic test that looks at the LIPA gene.

Treatment and care

There is an approved enzyme treatment specific to the disease. In the infant form, early diagnosis and treatment are very important. Babies are also given a special fat-restricted diet and vitamin supplements. A stem cell or liver transplant may be considered for some people. Cholesterol and the liver are checked regularly. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Diseases of this kind may be more common in marriages between relatives. Testing brothers and sisters is important for early treatment. Genetic counselling is recommended.