Genetic Condition Caused By Enzyme Deficiency
Missing or deficient enzyme (Lysosomal Acid Lipase – LAL) leads to build up of fat in the body’s cells, leading to liver disease, high bad cholesterol, and low good cholesterol. This disease is characterized as a lysosomal storage disorder.
Lysosomal Storage Leads To Progressive Symptoms
The lack of the LAL enzyme can lead to multi-organ complications, and a progressive build-up of fatty material in a number of body organs, including the liver, spleen, gut, blood vessel walls, and other organs.
Treatment IS Available
The FDA and the European Commission have approved a treatment for LAL-D. Developed by Alexion, this enzyme replacement therapy (ERT) helps to replace the LAL enzyme, which is missing or not working correctly, into the bloodstream.
Because of nutritional malabsorption, LAL-D can manifest in growth failure or ‘failure to thrive’, cachexia, and short stature.
GI manifestations of LAL-D can include abdominal and epigastric pain, malabsorption, gallbladder dysfunction, GI bleeding, vomiting and diarrhea.
LAL-D affects the liver in a range of ways, including liver dysfunction or failure, scarring of the liver, fibrosis and/or cirrhosis.
Cardiac manifestations of LAL-D include high low-density lipoprotein cholesterol (‘bad’ cholesterol), and low high-density lipoprotein cholesterol (‘good’ cholesterol). Patients may also suffer from accelerated atherosclerosis, coronary artery disease, stroke or suspected stroke, and myocardial infarction.
The spleen can be affected in a variety of ways, including anemia; enlargement of the spleen (splenomegaly); and/or an overactive spleen (hypersplenism), where blood cells are removed too early or too quickly. Deficiency of platelets in the blood (thrombocytopenia) can cause bleeding into the tissues, bruising, and slow blood clotting after injury.
Symptoms in Infants
Symptoms in infants with LAL-D include feeding difficulties with frequent vomiting, diarrhea, abdominal swelling, and failure to gain weight. Increasing fat accumulation in the liver can lead to jaundice and an ongoing low-grade fever.
Patients battling LAL-D may visit numerous specialists to help manage their disease. These include, but are not limited to: nutritionists, lipidologists, endocrinologists, cardiologists and hepatologists.
Hope for LAL-D Patients and Their Families
In 2015, the first ever treatment for LAL-D was approved in the US and European Union. Kanuma, created by Alexion Pharmaceuticals, is a version of the LAL enzyme that patients are lacking. This enzyme replacement therapy (ERT), delivered intravenously, was passed through the approval process in both the US and Europe because of the tremendous unmet need the treatment provided patients. Kanuma is currently pending approval through Health Canada.
Clinical trial results were very promising, with patients seeing a survival benefit in infants, and reductions in important markers of liver disease, including ALT and liver fat content. Both children and adults treated with Kanuma show significant improvements in lipid parameters. Treatment with Kanuma has given new Hope for families dealing with LAL-D.Jump To Alexion’s Kanuma Information Page