LAL D can be diagnosed using a simple blood test that measures the amount of the Lysosomal Acid Lipase (LAL) enzyme activity. People who have LAL D have very little to no LAL enzyme activity in the blood.
If testing shows that the LAL enzyme activity is low, this is a confirmed diagnosis for LALD, 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 important, though testing the enzyme level alone is enough to provide a confirmed diagnosis. Genetic testing can usually identify the LIPA gene variants, which is required for testing family members, and for testing future pregnancies. It is also essential to identify the LIPA gene variants for preimplantation genetic diagnosis which 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 LALD. We may also be able to learn some information about the presentation of the disease, since we know that some variants are associated with a severe, rapidly progressive form of LALD thetas lethal in the first year of life if untreated, and some variants are not associated with this form.
Due to limitations in genetic testing methodologies, in rare cases it is not possible to identify two mutations in the LIPA gene, even for patients who are affected with LALD and have very low LAL enzyme activity. This does not rule out LALD, since the enzyme test is diagnostic even if two mutations are not 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 listing of Selected LAL-D Treatment Centers to find a doctor who specializes in LAL-D.