Living with cholesterol ester storage disease: A case study

Abstract

Lysosomal storage diseases are metabolic disorders caused by dysfunctional lysosomal enzymes, resulting in the 
build-up of excess substrates in organ cells. Lysosomal acid lipase (LAL) deficiency is a rare genetic disorder caused 
by the absence of the LAL enzyme. The disease encompasses infantile-onset (Wolman disease) and later-onset forms of  cholesteryl ester storage disease (CESD). A 16-month-old female with upper abdominal distension was admitted without significant comorbidities. She had elevated triglycerides, transaminitis, and a homozygous missense variant in the LIPA gene, indicating CESD. Live donor liver transplantation was chosen, with the father as the donor. The procedure was uneventful, and post-operative recovery was smooth. Immunosuppression was provided post-transplant and tapered upon discharge. She received prophylactic medications and was monitored for 3 months, tolerating the treatment well.