The Lysosomal Acid Lipase (LAL) Deficiency Knowledge Centre is intended to provide healthcare professionals with accurate disease awareness and treatment information for patients with this condition.
LAL deficiency is an autosomal recessive lysosomal storage disorder resulting in marked lysosomal accumulation of cholesteryl esters and triglycerides. LAL deficiency has multi-organ involvement including the liver, spleen, and cardiovascular system. The two major phenotypes of this condition are a rapidly progressive form in infancy (formerly known as Wolman disease) and a later-onset progressive form in children and adults (formerly known as cholesteryl ester storage disease, CESD).
Users of this educational resource can expect to find clinical content arranged within three main sections:
Disease Awareness: including epidemiology, pathophysiology, genotypic presentation, diagnosis, prognosis and more…
Treatment: presents the drug characteristics, safety and efficacy of sebelipase alfa – the first and only licenced treatment for LAL deficiency
Resources: useful external links, events calendar and a video channel with short expert video discussions on topics such as diagnostic approach and current prognosis.
Developed by EPG Health Media (Europe) Ltd for epgonline.org, in collaboration and with content provided by Alexion Pharma GmbH