How does LAL-D Occur?
LAL-D occurs when a person inherits a defective copy of the LIPA gene from both parents. In these situations LAL enzyme either does not work properly or is not made at all.
Patient image is hypothetical.
What is LAL-D?
(Lysosomal acid lipase deficiency)
Historically known as Wolman Disease in infants and cholesteryl ester storage disease (CESD) in children and adults, LAL-D is caused by mutations in the LIPA gene, leading to the deficiency of LAL enzyme.
Health Risks Associated with LAL-D
LAL-D may affect many vital organs such as the liver, spleen, heart, and the digestive tract, and can cause complications in organ systems.
Why LAL-D Diagnosis is commonly delayed
Patients with LAL-D are often misdiagnosed because LAL-D shares symptoms with other conditions such as nonalcoholic fatty liver disease (NAFLD), nonalcoholic steatohepatitis (NASH), familial combined hyperlipidemia (FCH), heterozygous familial hypercholestrolemia (HeFH), metabolic syndrome, and cardiovascular disease.
Early Diagnosis is Key
Early management may reduce the risk of serious complications – talk to your/your loved one’s doctor about symptoms you/they are experiencing and if testing for LAL-D is right for you/them.
LAL-D is an Inherited DISEASE
(IT IS PASSED FROM PARENTS TO CHILDREN)
LAL-D Impacts Health
LAL-D diagnosis is frequently delayed
