LAL-D is under-diagnosed1
LAL-D primarily presents in pediatric patients, however, many older patients with LAL-D may be misdiagnosed or undiagnosed2
PATIENTS WITH LAL-D MAY PRESENT AT ANY AGE2
aThis observational study included 48 patients with confirmed diagnosis of LAL-D from North America and Europe. Patients with rapidly progressive LAL-D ≤5 years of age were excluded from the study.
LAL-D IS RARE, WITH AN ESTIMATED PREVALENCE OF
Abbreviation: LAL-D, lysosomal acid lipase deficiency.
Note: The estimated mean birth prevalence of rapidly progressive LAL-D was 0.32-1.1 cases per million births in the European ancestry population, and the mean birth prevalence of childhood/adult LAL-D was 3.45-5.97 cases per million births (Del Angel et al. 2019).
References: 1. Reiner Ž, et al. Atherosclerosis. 2014;235(1):21-30. 2. Bernstein DL, et al. J Hepatol. 2013;58(6):1230-1243. 3. del Angel G, et al. Hum Mutat. 2019;40:2007-2020. 4. Lukacs Z, et al. Clinica Chimica Acta. 2017;471:201-205.
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