Lysosomal Acid Lipase Deficiency – Rare but Treatable

Nov 23, 2021 | News and Events

Lysosomal Acid Lipase Deficiency (LAL) is a rare, genetic condition that causes individuals to have buildup of fatty material in their cells. Most people will have symptoms by the age of 5.

What is Lysosomal Acid Lipase Deficiency (LAL)?

The two forms of lysosomal acid deficiency were once thought to be separate disorders. The early-onset form was known as Wolman disease, and the later-onset form was known as cholesteryl ester storage disease. Although these two disorders have the same genetic cause and are now considered to be forms of a single condition, these names are still sometimes used to distinguish between the forms of LAL. The later-onset form is more common than the early-onset form.

LAL is characterized by problems with the breakdown and use of fats and cholesterol in the body. It causes the accumulation of fats in cells and tissues throughout the body, leading to liver and other organ disease.

Symptoms, Diagnosis and Treatment of LAL

Symptoms seen in the early-onset form of this disease are enlarged liver and spleen, poor weight gain, jaundice, vomiting and diarrhea. Infants affected by this will often have anemia and developmental delays. Scar tissue will build up in the liver and this leads quickly to cirrhosis. Infants with this form of LAL develop multi-organ failure and severe malnutrition – often leading to death within the first year of life.

Those with the later-onset form of LAL have a variance of symptoms as seen above, but usually in a milder form. Approximately one-third will have malabsorption of nutrients, vomiting and diarrhea. Individuals may have elevated liver enzymes and high cholesterol levels.

The diagnosis is obtained with blood tests and diagnostic imaging of the liver and spleen. Treatment is aimed at symptom management. The only FDA approved and indicated treatment for this disorder currently is enzyme replacement therapy Kanuma (Sebelipase Alfa). These are infusions given weekly or every other week, depending on symptom management need and patient responsiveness. Currently the cost of these treatments are around $10,000 per vial. There are many other costs involved in the treatment of symptoms of liver failure as well. Currently there are about 2,000 people in the US affected by this debilitating and life-limiting disease.

Financial Assistance for LAL

Patient Services, Inc. has an established fund to help publicly insured, privately insured, and uninsured patients with LAL. PSI provides financial assistance with copays, premiums, medical expenses, and travel.

To see if you qualify for assistance, check out our  prescreening tool and apply today. You can also call us at 1-800-366-7741.

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