About LAL Deficiency

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About Lysosomal Acid Lipase Deficiency (LAL-D)

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Disease Overview

LAL-D is a rare, progressive, hereditary condition in which infants, children, and adults have an uncontrolled buildup of fatty material (cholesterol esters and triglycerides) in their liver, intestines, blood vessel walls, and other tissues that may affect the function of many organs throughout the body. Infants with rapidly progressive LAL-D, historically known as Wolman disease, may face serious complications within the first year of life. LAL-D in children and adults (historically known as cholesteryl ester storage disease or CESD) can lead to serious health problems that can occur at any time. Now, both, Wolman disease and CESD, are often referred to as LAL-D.

People born with LAL-D are not able to break down fatty materials normally because their bodies do not make enough of an enzyme called lysosomal acid lipase (LAL). LAL-D is caused by a change in the gene called LIPA, that has the information to make LAL enzyme. Buildup of fatty material can lead to liver injury that can progress to liver failure, increased risk of cardiovascular events in children and adults, and premature death in infants.

LAL-D is passed from affected parents to their children. If you are diagnosed with LAL-D, there is a chance that other members of your family may be affected as well.

LAL-D Diagnosis

While the number of people affected by LAL-D is very low (proportion of a population found to be affected is approximately 3-6 cases/million) it can be difficult to diagnose due to there being many signs and symptoms that overlap with other common diseases. Without awareness and proper testing, these similarities can lead to a misdiagnosis and inadequate treatment.

LAL-D should be suspected when liver disease is present or when there is fat and/or cholesterol metabolism disorder present without a cause.

Diagnosis of LAL-D is based on:

Medical and family history
Doctor examination
Findings in laboratory tests
Determination of reduced LAL enzyme activity
Confirmation of presence of known LIPA gene variant

LAL-D is usually diagnosed based on a blood test.

* Doctor's image is hypothetical

Overall, raising awareness of LAL-D can help a doctor to accurately diagnose this disease earlier so they can appropriately manage the patients. It is important for LAL-D to be considered as a potential diagnosis in patients with signs and symptoms commonly associated with more common heart, liver, and metabolic diseases.

Health Management Strategies

This information is not meant to replace your doctor's professional opinion. Please be sure to talk to your doctor about the best way to manage your Lysosomal Acid Lipase Deficiency (LAL-D).

LIPID-LOWERING MEDICATIONS

Lipid-lowering medications typically treat high cholesterol – a common complication in patients with LAL-D. However, there have not been controlled studies that demonstrate that lipid-lowering medications address the underlying cause of LAL-D or prevent liver disease progression in patients with LAL-D.

LIVER TRANSPLANT

A liver transplant may provide patients with LAL-D relief from liver failure, but liver transplant does not address the underlying cause of the disease and may not halt disease progression in the heart and kidneys. It will also not prevent the risk of other severe complications.

HEMATOPOIETIC STEM CELL TRANSPLANT (HSCT)

HSCT has been performed in a few infants with LAL-D. While information on long-term outcomes is limited, HSCT has been associated with severe complications.

ENZYME REPLACEMENT THERAPY (ERT)

ERT has been approved for various lysosomal storage diseases. There is a risk for life-threatening and severe allergic reactions with infusions of therapy.