Lysosomal Acid Lipase Deficiency (LALD)

Lysosomal acid lipase deficiency (LALD) is a rare, chronic and inherited disease that is characterized by not having a functional lysosomal acid lipase enzyme.

your quick guide to this page

what is lysosomal acid lipase deficiency (LALD)?: Learn what defines lysosomal acid lipase deficiency and what its general consequences are.
fast facts: Get a quick overview of lysosomal acid lipase deficiency through statistics and bite-sized facts.
symptoms: Learn about the symptoms of lysosomal acid lipase deficiency, how to recognize them, and what to do if you experience them.
lifestyle impacts: Find out how lysosomal acid lipase deficiency impacts your lifestyle.
what can I do?: Discover management and treatment strategies for lysosomal acid lipase deficiency.
additional resources: Find useful links, education, articles, recipes and more that can help with lysosomal acid lipase deficiency.

what is lysosomal acid lipase deficiency (LALD)?

Lysosomal acid lipase breaks down fat and cholesterol in cells and a deficiency in this enzyme can lead to health complications. Lysosomal acid lipase deficiency results in fat accumulation (i.e. cholesterol esters and triglycerides) in organs which can lead to organ damage and the development of fatty liver disease, cirrhosis, and liver failure.

Infants (also known as Wolman disease):

Infants with LALD begins to show symptoms at around one month of age, which progresses to liver failure and life-threatening complications with death occurring within 6 months to 1 year of age.

fast facts

Around 50% of children and adults with LALD progress to fibrosis, cirrhosis, or liver transplant within 3 years.
The average age of LALD onset is 5.8 years old.
Around 50% of infants with LALD have adrenal calcifications (cysts).
LALD arises from mutations in the LIPA gene and there are over 130 variants.

symptoms

infants

Failure to grow, enlarged abdomen, vomiting and diarrhea, jaundice, malabsorption

children and adults

Enlarged liver in a physical exam, abnormal lipid (high triglyceride and cholesterol, HDL deficiency) and enzyme profile from a blood test
Easy bruising or bleeding
Ascites (fluid buildup in the abdomen)
Jaundice

complications

Liver complications: enlarged liver, fibrosis, cirrhosis, liver failure
Cardiovascular system: lower HDL, higher LDL, heart attacks, strokes
Spleen: enlarged spleen, low platelet count
Gastrointestinal system: pain, bleeding, diarrhea, poor nutrient absorption, malnutrition

what can I do?

prevention

Lysosomal acid lipase deficiency is a disease caused by genetics, so it cannot be prevented.

diagnosis

An accurate diagnosis of LALD can be made with a blood test that measures the activity of the LAL enzyme. It can also be diagnosed through genetic testing.

treatment

Kanuma is an enzyme replacement therapy that can treat LALD, as it is a recombinant human lysosomal acid lipase. It is provided intravenously. It has been approved by Health Canada to treat LALD in infants, children and adults. Supportive treatments include a low-fat diet, statins and other lipid-lowering agents, stem cell transplants, and liver transplant.

additional resources

Here are a few questions to ask your doctor or medical team:

What is my family’s risk of developing LALD? Should my family be tested?
What treatment and/or lifestyle modifications are beneficial for someone with LALD?
What’s my risk of progressing to fatty liver disease or cirrhosis?