Children with rapidly progressive LAL-D
Clinically, there are two main types of LAL-D: Wolman disease, which occurs in infants, and later-onset LAL-D, also known as cholesteryl ester storage disease (CESD), which occurs in children and adults [1,2]. LAL-D is a genetic hereditary disorder that affects fat metabolism [1,2]. It is characterised by the storage of some specific lipids (cholesterol esters and triglycerides) in the majority of organs and tissues, due to an absence or deficiency of the lysosomal enzyme lysosomal acid lipase [1,2].
The clinical onset of Wolman disease occurs in the first few weeks of life and affects multiple organs [1,2]. This is a severe disease and affected infants can experience gastrointestinal abnormalities, progressive malnutrition, hepatosplenomegaly and steatorrhea [1,2].
A low-fat diet is an important and integral part of patient management [3,4]. Regular dietary adjustments are needed in order to ensure that growth is optimal and fat consumption should be consistent with recommended goals . Please talk to your child’s treating physician to obtain the appropriate dietary advice.
- Bernstein DL, Hülkova H, Bialer MG, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230-1243.
- Pericleous M, Kelly C, Wang T, et al. Wolman’s disease and cholesteryl ester storage disorder: The phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol 2017;2(9):670–79.
- Cohen JL, Burfield J, Valdez-Gonzalez K, et al. Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. Orphanet J Rare Dis. 2019;14(1):198.
- Jones SA, Rojas-Caro S, Quinn AG, et al. Survival in infants treated with sebelipase alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. Orphanet J Rare Dis. 2017;12(1):25.