On November 26, 2022, ELPA Vice President Julio Burman presented ELPA’s activities during the IV meeting of experts and families affected by Lysosomal Acid Lipase Deficiency (LAL-D). He was invited by the Spanish Patient Organization Lysosomal Acid Lipase Deficiency (AELALD)
ELPA member. LAL-D is a rare, chronic, progressive inherited disorder. It affects the body’s ability to produce an enzyme called lysosomal acid lipase (LAL). This enzyme is needed to break down your cells’ fats (lipids) and cholesterol. When the LAL enzyme is missing or deficient, fats accumulate in organs and tissues throughout the body, primarily leading to liver disease and high “bad cholesterol,” linked to cardiovascular disease. LAL-D is an ultra-rare disease, defined as a disease that affects fewer than 20 people per one million of the general population. The disease affects individuals of all ages from infancy through adulthood; however, manifestations of the disease vary across the lifespan. Infants with LAL-D begin to show severe symptoms about one month of age that rapidly progress to life-threatening complications, with death typically occurring before six months of age. Historically, LAL-D in infants was called Wolman disease.