LAL-D can be diagnosed using a simple blood test that measures the amount of Lysosomal Acid Lipase (LAL) enzyme activity in the blood. People with LAL-D have little to no LAL enzyme activity.
If testing shows that the LAL enzyme activity is low, this is a confirmed diagnosis for LAL-D, and no further testing is required to make the diagnosis.
Genetic testing of the LIPA gene, which provides instructions for making the LAL enzyme, is also essential, though testing the enzyme level alone is enough to give a confirmed diagnosis. Genetic testing can usually identify the LIPA gene variants, which are required for testing family members and for testing future pregnancies. It is also essential to identify the LIPA gene variants for preimplantation genetic diagnosis. This enables families to utilize in vitro fertilization and test the embryo for LAL-D before a pregnancy is established, almost eliminating the possibility of having a child with LAL-D. We could also learn some information about the presentation of the disease associated with different genetic variants.
Due to limitations in genetic testing methodologies, it is not possible to identify two mutations in the LIPA gene in rare cases, even for patients who are affected with LAL-D and have very low LAL enzyme activity. However, this does not rule out LAL-D since the enzyme test is diagnostic, even if two mutations still need to be identified.
If you are not currently diagnosed with LAL-D but have signs or symptoms and want to be tested, please contact your doctor or see our list of Selected LAL-D Treatment Centers to find a doctor specializing in LAL-D.