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Lysosomal Acid Lipase Deficiency (LAL-D)

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

Lysosomal acid lipase deficiency is an inherited condition characterized by issues with the breakdown and use of fats and cholesterol in the body. LAL-D affects the body’s ability to produce an enzyme called lysosomal acid lipase (LAL), which is needed for the breakdown of lipids and cholesterol in the cells.

In affected individuals, harmful amounts of fats (lipids) accumulate in cells and tissues throughout the body, which commonly cause liver disease.

There are two forms of the disease: the early-onset form is known as Wolman disease, and the later-onset form is known as cholesteryl ester storage disease.

What are the symptoms of LAL-D?

The LAL enzyme plays a major role in breaking down certain lipids and cholesterol. When there is a decrease or loss of LAL, lipids and cholesterol do not get processed; they build up in cells and organs throughout the body, including the spleen, liver, and blood vessel walls. Symptoms include:

  • Enlarged liver, fibrosis, cirrhosis, or liver failure
  • Low amounts of good cholesterol, high amounts of bad cholesterol
  • Risk of heart attack
  • Risk of stroke
  • Enlarged spleen
  • Low platelet count leading to bleeding problems
  • Jaundice
  • Diarrhea

What causes LAL-D?

LAL-D is caused by a mutation in both copies of the LIPA gene, which is responsible for the production of LAL. Abnormalities in this gene result in little to no LAL enzyme activity.

How is LAL-D diagnosed?

LAL-D is often diagnosed after clinical evaluation, detailed patient history, and identification of characteristic symptoms.

A diagnosis may be confirmed through:

  • Blood test
  • Imaging test
  • Genetic testing
  • Biopsy

What treatments are available for LAL-D?

In 2015, the FDA approved Kanuma (sebelipase alfa), the first therapy that treats the underlying cause of the LAL-D.

Supportive treatments used to manage LAL-D include:

  • Low-fat diet
  • Statins and other lipid-lowering agents
  • Stem cell transplant
  • Liver transplant

Where can I find out more about lysosomal acid lipase deficiency (LAL-D)?

Lysosomal Acid Lipase Deficiency (LAL-D) Articles