Why I should talk to my family about LAL Deficiency?

Whether you call LAL Deficiency Wolman Disease (early onset of LAL Deficiency) or Cholesteryl Ester Storage Disease, CESD, (late onset of LAL Deficiency), it is a rare condition, relative to other chronic health conditions. Most people do not know what it is and might never have heard of it. You may find that many doctors and other healthcare professionals do not know much about it.

It is important to help your family and healthcare providers understand what LAL Deficiency is, what it means to you, and how your diagnosis might impact your family. Some topics to share are major signs and symptoms and how the condition is passed down through families.
Sharing you story will help your relatives understand their family health history. In turn, it is helpful for you to know your whole family health history, including LAL Deficiency and other conditions that might run in your family. Putting the whole picture together will help you and your relatives:
• Identify the risks due to shared genes
• Talk to each other about health (including quality of life)
• Summarize health information to give to healthcare providers

What is LAL Deficiency?

Under normal conditions, the body produces an enzyme called lysosomal acid lipase (LAL). The LAL enzyme breaks down fatty material (cholesteryl esters and triglycerides). Lysosomal Acid Lipase (LAL) Deficiency happens when the body is not producing enough LAL. Infants, children and adults that suffer from LAL Deficiency experience a range of very serious and devastating health problems. The lack of the LAL enzyme results in a build-up of fatty material in the liver, gut, in the wall of blood vessels and other important organs.

Extremely low levels of the LAL enzyme may cause early onset of LAL Deficiency, sometimes called Wolman Disease after the physician who first described it. Early onset LAL Deficiency typically affects infants in the first year of life. The build-up of fatty material in the cells of the gut prevents the body from absorbing nutrients. These infants die during their first year of life from a failure to grow and from other complications due to liver failure.

Later onset LAL Deficiency is sometimes called Cholesteryl Ester Storage Disease (CESD) and can affect children and adults. Patients experience a build up of fatty material mostly in the liver, spleen and blood vessel walls although other body organs may be affected too. The build up of fatty material in the liver cells may lead to an oversized liver, cirrhosis and chronic liver failure.

Who is at risk?

LAL Deficiency occurs in both males and females. It affects people of all races and ethnicities all over the world. Estimations are that LAL Deficiency affects in 25 out of every million births. Infants, children and adults are at risk for significant health problems and premature death from complications due to LAL Deficiency.

LAL Deficiency is an inherited condition. The gene that is responsible for telling the body how to make the LAL enzymes is not normal, and the LAL enzyme either does not work properly or is not made at all. Every person inherits 2 copies of the LAL gene: one copy from our mother and the other from our father. A person with LAL Deficiency inherited one abnormal copy of the gene from the mother and one abnormal copy of the gene from the father. Having only one copy of the abnormal gene does not usually lead to the disease. The person with one copy of the abnormal gene becomes a carrier of the disease and can pass on the abnormal copy to their children. When both parents are carriers, there is a 25% (one in four) chance with each pregnancy that their child will have LAL Deficiency.

How are individuals affected?

Receiving a diagnosis of a genetic condition can be a life-changing event for individuals and families. Fortunately, much has been learned about LAL Deficiency-what causes it, how its symptoms can be managed and possible treatments that may prevent, stop or reverse major symptoms. Clinical trials have begun and are currently enrolling diagnosed patients.

Why didn’t my doctor diagnose this earlier?

For some people with LAL Deficiency, early diagnosis is important. Cirrhosis of your liver and atherosclerosis of your cardiovascular system are the two major outcomes of this progressive disease. Therefore, choosing a physician with expertise in LAL Deficiency, Hyperlipidemia, Non Alcoholic Fatty Liver Disease or Neimann-Pick C would be in your best healthcare interest. LAL Deficiency is a lifelong condition. Visit your doctor regularly for check-ups. Specific monitoring over time will help your physician keep track of your liver and spleen size as well as your cholesterol levels. Your doctor may perform an ultrasound, blood tests or other tests to better evaluate the effect LAL Deficiency has had on your body.

What is a Genetic Disorder? How are families affected?

You inherit many things from your parents and grandparents. They pass on culture and values through photos, recipes, stories, spiritual practices and music. You also inherit how you look-for example, your height and the color of your eyes. Small structures in cells called genes carry information for these characteristics and guide your body through growth and development. Changes in genes may also lead to a risk in the family for developing certain health conditions, such as LAL Deficiency.
Genes are the instructions inside each of your cells. Since everyone has slightly different genes, everyone has a different set of instructions. Genes are one reason why you are unique. Genes carry instructions that tell your cells how to work and grow. A person has two copies of each gene, one from the mother and one from the father. A change in a gene is called a mutation. Genes are inside cells. Every part of your body is made up of billions of cells working together. Genes are arranged in structures called chromosomes. Copies of the chromosome are found in each cell. Chromosomes are made up of DNA. DNA is the special code that spells out the instructions in your genes. LAL Deficiency is caused by a mutation in a single gene: chromosome 10.

What Physician Specialists diagnose LAL Deficiency?

Usually a physician with training and experience in Hepatology, Cardiology and/or Genetics would be the Sub-Specialties most likely to suspect the symptoms to be caused by a missing or deficient enzyme to break down the lipids clogging up the lysosomes in your cells.

What should I expect?

Your physician will be very interested in evaluating your health history, your family history, some blood tests, an ultrasound to measure the volume of your internal organs and/or possibly a liver biopsy.

How do I talk to my family about LAL Deficiency?

Use what your Physician(s), whether he or she is a Geneticist, Hepatologist or Cardiologist, have given you: test results, a letter or some other information you received about your diagnosis to share with your family. It will help them to better understand your circumstances. It may help to explain their chances of having LAL Deficiency or the chance of children inheriting LAL Deficiency from their parents. Websites and brochures like this one may be useful. You may want to plan an individual conversation or bring a medical professional who understands LAL Deficiency for support or you may wish to send a letter. Your physician or genetic counselor may be able to help you write the letter as well as identify who in the family would benefit from being informed.
• Tests results
• How genetics affects family members
• Websites, brochures
• Plan a conversation, bring support or send a letter
• Be ready for different reactions

What now?

Keep talking to family and doctors. Try to update yourself about LAL Deficiency and remember, you cannot change the fact that you have LAL D but you can take steps toward a healthier life.

Resources?

Websites like www.geneticalliance.org www.nord.org, www.ntsad.org, www.synageva.com:
Diagnostic testing is available through www.genetests.com
More Resources you can contact are www.Synageva.com at 1-781-357-9900

What should I do if my family does not want to talk about LAL Deficiency?

Some family members might not understand why it is important to know this information. Others might be nervous about receiving a diagnosis of LAL D themselves. It is normal to be anxious or uncomfortable if something is unfamiliar. We are all at different emotional places at different times and will process the information differently.

If family members remain unwilling to talk about it, respect their wishes. Try to understand that it is not unusual for family members to react to the news differently. Let them know you are available to talk when they are ready and if they have questions.