Lysosomal acid lipase (LAL) deficiency is a disorder that affects how the body processes fats. People with this condition lack or don’t have enough of an enzyme called acid lipase, which is important for breaking down fatty substances.
Due to this, lipids (fatty molecules) build up in organs like the spleen, liver, and intestines, causing damage. There are different types of this disease, including Wolman disease and cholesteryl ester storage disease (CESD).
In Wolman disease, which is more severe, symptoms appear in the first few weeks of life. These include a swollen liver and spleen, a large belly, vomiting, diarrhea, low red blood cell count, yellow skin or eyes, and problems with weight gain. CESD is milder and can show symptoms from childhood to adulthood. People with CESD might have an enlarged liver and spleen, high cholesterol, and plaque formation in the arteries, which can lead to heart problems. Treatment options are limited. Bone marrow transplantation can cure Wolman disease, but it is a risky procedure. For those not undergoing this treatment, the disease is fatal, and treatment focuses on easing symptoms. CESD symptoms are managed with medications and sometimes require liver transplantation. Enzyme replacement therapy is available for both types, which has been shown to extend life. However, it’s important to monitor and manage the symptoms with medical help.
LPL deficiency is caused by pathogenic (disease-causing) variants in the LIPA gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 33 chance to be a carrier.
Other names for this condition are acid esterase deficiency, acid lipase deficiency, familial xanthomatosis, and primary familial xanthomatosis with adrenal calcification.
Resources:
Revised October 2023
