LAL Deficiency (Lysosomal Acid Lipase Disease) & Wolman Disease patient support
LAL Deficiency occurs less frequently in infants than it does in children, adolescents or adults. The early onset form of LAL Deficiency (Wolman Disease) strikes 1-2 babies for every million births and is rapidly fatal, usually in the first year. Late onset LAL Deficiency (CESD) affects 25 individuals per million births and may lead to liver fibrosis, cirrhosis, liver failure and death. There also appears to be an increased risk of strokes because of potential build-up of lipid in the walls of major arteries (atherosclerosis).
LAL Deficiency belongs to a family of diseases called Lysosomal Storage Disorders. It is a genetic condition, and like some other genetic disease (eg cystic fibrosis) parents may not know they are carriers of the abnormal gene until they have an affected child. If both parents are carriers, there is a one in four chance that their baby will inherit the gene that prevents the body from producing lysosomal acid lipase (LAL). The LAL enzyme breaks down fatty material (cholesteryl esters and triglycerides), and the lack of the LAL enzyme results in a build-up of these materials in the liver, the gut or other important organs including the walls of blood vessels.
Many of these signs and symptoms of CESD are experienced by patients with other more common liver conditions such as Non Alcoholic Fatty Liver Disease (NAFLD) or Non Alcoholic Steatohepatitis (NASH). CESD, NAFLD and NAH share the common trait of an increase in the amount of fat in the liver. 30-60 million Americans have excessive fat in their livers according to the National Institute of Health whereas only about six thousand Americans have CESD. It is likely that patients who actually suffer from CESD go unnoticed and undiagnosed because some of their signs and symptoms resemble this larger population of people with fatty livers.
The doctor will make his or her diagnosis based upon signs, symptoms and laboratory abnormalities (lipids, liver transaminases). Testing the blood or organ tissues for the LAL enzyme or analyzing the genes for the LAL mutation may help confirm the diagnosis. Your physician can order a simple blood test to make the diagnosis. Two tablespoons of your blood drawn into a vial will be sent to a lab such as the Baylor Medical Genetics Laboratories: https://www.bcm.edu/geneticlabs/test_detail.cfm?testcode=6430;Results will be available to you and your doctor in two-three weeks.
Other labs that support these types of tests for LAL Deficiency can be found by checking the web sites below: http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab?db=GeneTests (search using, “cholesteryl ester storage disorder” in disease field) http://www.orpha.net/consor/www/cgi-bin/ClinicalLabs.php?lng=EN (search using, “cholesteryl ester storage disorder)
There are no approved treatments for LAL Deficiency (CESD). High blood lipid levels may be treated with a combination of low-fat diet and lipid-lowering medications such as statins, fibrates, cholestyramine and ezetimibe. Although these treatments can lower the blood lipid levels, they do not improve the liver abnormalities or the underlying disease of CESD. Liver transplant may be an option for when the liver fails.
Synageva has initiated a global clinical development program with an enzyme replacement therapy for Lysosomal Acid Lipase Deficiency. You and your physician can learn more by accessing: www.ClinicalTrials.gov or calling the Clinical Department at Synageva: 1-781-357-9900