ALT↑ + LDL-C↑ should prompt testing for LAL-D1


Test for LAL-D with a blood test2,3

LAL enzyme activity testing is confirmatory for LAL-D2,3

Many commercial labs offer a LAL enzyme test using whole blood in EDTA tubes2-4,a

LAL enzyme activity in whole blood is measured by DBS3

Commonly a purple-top EDTA tube is used, please check with your lab for specific instructions5

Chart on screen

Check your electronic medical record for LAL-D testing and add it to your preference list

Family holding hands

Genetic testing for LIPA is not diagnostic, but it helps support a positive diagnosis3

liver biopsy

Liver biopsy is NOT required for diagnosis of LAL-D3

aCheck with your lab provider to determine whether they offer a LAL enzyme test.

Abbreviations: ALT, alanine aminotransferase; EDTA, ethylenediaminetetraacetic acid; LAL-D, lysosomal acid lipase deficiency; LDL-C, low-density lipoprotein cholesterol.

References: 1. Burton BK, et al. J Pediatr Gastroenterol Nutr. 2015;61(6):619-25. 2. Lukacs Z, et al. Clinica Chimica Acta. 2017;471:201-205. 3. Reiner Ž, et al. Atherosclerosis. 2014;235(1):21-30. 4. Data on File, Alexion Pharmaceuticals. 5. Labcorp Website. 2020. Accessed January 29, 2021.

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