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What is LAL-D?

Lysosomal Acid Lipase Deficiency (LAL-D) is a genetic, progressive ultra-rare metabolic disease. It is associated with multi-organ damage in infant, pediatric and adult patients.

In patients suffering from LAL-D, genetic mutations result in a loss in activity, or decrease, of the LAL enzyme; this leads to ongoing accumulation of cholesteryl esters and triglycerides in the liver, blood vessel walls and other tissue. This can result in progressive complications in multiple organs, including the liver, spleen, and intestine, and leads to some of the symptoms described below.

Before it was realized that LAL-D is the same disease in infants, children, and adults, the disease was referred to as ‘Wolman Disease’ in infants, and ‘Cholesteryl Ester Storage Disease’ for children and adults.

Treatments for LAL-D are available. Currently, an enzyme replacement therapy exists to replace the missing enzyme, helping to break down fats and stop them from building up in the body’s cells.

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LAL-D QUICK STATS

5

Estimated LAL-D Cases in Canada

1

FDA Approved Therapy

20

People Per Million Diagnosed With LAL-D

LAL-D QUICK STATS May 12th, 2017mcfadyena

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What Causes LAL-D?

LAL-D is caused by mutations affecting the LIPA gene, resulting in a deficiency of LAL enzyme activity in the lysosomes. The LAL enzyme plays an important role in controlling the body’s low density lipoproteins (LDL), known as the ‘bad cholesterol,’ which can be linked to cardiovascular disease. Without this enzyme, harmful amounts of lipid particles build up in the cell’s lysosome.

LAL-D is an autosomal recessive disease, meaning patients have two genetic ‘mutations’ on a gene (the LIPA gene, in LAL-D patients): one passed down from the father, one from the mother. These mutations prevent the body from producing an enzyme called lysosomal acid lipase (LAL).

The LAL enzyme is responsible for breaking down fats in the lysosome part of the cell. Since the LAL enzyme is missing, or deficient, fats build up in many cells, which primarily leads to liver disease, high bad cholesterol, and low good cholesterol.

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.

What Causes LAL-D? May 12th, 2017mcfadyena

symptoms

Symptoms of LAL-D

There are many symptoms and associated consequences for patients suffering from LAL-D. Misdiagnosis of LAL-D is suspected due to overlap in its clinical presentation with other conditions, including Wilson disease, nonalcoholic fatty liver disease, metabolic syndrome, and more. The majority of LAL-D patients show manifestations in more than one organ system.

Until recently, management of symptoms was the only course of care for patients. In 2015, the first ever treatment for LAL-D was approved by the FDA and the European Commission. More information on this treatment can be found in our TREATMENT section.

Growth

Because of nutritional malabsorption, LAL-D can manifest in growth failure or ‘failure to thrive’, cachexia, and short stature.

Gastrointestinal

GI manifestations of LAL-D can include abdominal and epigastric pain, malabsorption, gallbladder dysfunction, GI bleeding, vomiting and diarrhea.

Liver

LAL-D affects the liver in a range of ways, including liver dysfunction or failure, scarring of the liver, fibrosis and/or cirrhosis.

Heart Disease

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.

Spleen

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.

Specialist Care

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.

Symptoms of LAL-D May 12th, 2017mcfadyena

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Talk to a LAL-D Parent

If you would like to talk directly with other parents of LAL-D patients in Canada, please fill out your information and one or more will contact you as soon as possible.  When things get stressful and tough, sometimes it helps to speak with someone in similar circumstances, fighting the same battle that you are.

At the same time, sometimes it’s just nice to connect! Whatever the reason, if you’d like to talk with a “LAL-D Mom or Dad”, we’ll connect you right away.

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Talk to a LAL-D Parent May 12th, 2017mcfadyena

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Treatment with Kanuma for LAL-D

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

Treatment with Kanuma for LAL-D May 12th, 2017mcfadyena

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 It is a shock to discover your child has something so rare and life threatening – but we were determined, and now Teaghan’s life will be saved by Enzyme Replacement Therapy.  

Lisa Gearey – Mother of a child with Lysosomal Acid Lipase Deficiency

Treatment Quote June 5th, 2017mcfadyena

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Support for Accessing Treatment in Canada

If you would like assistance obtaining Kanuma treatment in Canada, please don’t hesitate to contact us and we will do whatever we can to assist.

We can join you for a meeting with your Member of the Provincial Parliament (MPP) or  Member of the Legislature (MLA) and work closely with them to ensure reimbursement for treatment is forthcoming.  We can also help you connect with other families undertaking the same processes, connect with the drug company that makes Kanuma (Alexion Pharmaceuticals) on your behalf, and come meet with you in your home province to help support you in any way necessary.

Whatever we can do to help, we’ll be here.

If you would rather connect with us via social media, please find us on the links below:

 

LAL-D in Canada

 

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Support for Accessing Treatment in Canada May 12th, 2017mcfadyena