Important to Know
It's an inherited disease

LAL-D is an inherited disease, so if you are diagnosed with LAL-D, there is a chance that other members of your family have it too.

It impacts health in many ways

People born with LAL-D aren't able to break down fatty materials, so they may experience multi-organ complications.

Diagnosis can be delayed

LAL-D can be mistaken for other conditions. It is important to track and report all of your symptoms so you can help get diagnosed as early as possible.

It’s up to you to take action

Early management of the disease may reduce the risk of serious complications in the future. Talk with your doctor about the best way to manage LAL-D.

Myth

Wolman Disease and CESD are two separate diseases.

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Fact

LAL-D, previously known as Wolman disease and CESD, results from a mutation to one gene (LIPA) that leads to a deficiency in one enzyme (LAL), which is now considered one disease (LAL-D).

How Does Lal-D Occur?

In people with LAL-D, the gene (LIPA 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 has two copies of the LIPA gene. One copy is inherited from the father and one from the mother. LAL-D occurs when a person has defects in both copies of the LIPA gene.

LAL-D Affects People of All Ages

People of all ages, from infancy through adulthood, of any gender, and any ethnic background can have LAL-D.

Infants diagnosed with LAL-D begin to show severe symptoms at about 1 month of age. In children and adults, the onset of symptoms can appear around 5 years of age, however in some people, LAL-D progresses without any obvious signs and symptoms and may not be diagnosed until later in life.

5 Years

The age by which most people with LAL-D will have symptoms.

Health Risks Associated With LAL-D

LAL-D affects many vital organs, such as the liver, heart, digestive tract, and spleen. In fact, most people with LAL-D experience complications in more than one organ system. These can potentially include:

Liver

Diagnosed in a variety of ways such as hepatomegaly—an enlarged liver, as well as liver failure and dysfunction. In addition, a diagnosis of cirrhosis, which is chronic scarring of the liver, is common.

Heart

Includes high amounts of “bad” cholesterol (aka LDL or low-density lipoprotein cholesterol), low amounts of “good” cholesterol (aka HDL or high-density lipoprotein cholesterol), atherosclerosis (hardening of the arteries), heart attack, and/or stroke.

Digestive Tract

Such as stomach pain, malabsorption, gallbladder problems, bleeding, and diarrhea.

Spleen

Enlarged and/or overactive spleen, too few platelets in the blood, and/or anemia.

Other complications associated with LAL-D

Include growth failure or failure to thrive, malnutrition, and calcium deposits in the adrenal glands.

Why LAL-D Diagnosis Is Commonly Delayed

Rare diseases, like LAL-D, can take an average of 4.8 years to diagnose because they may share symptoms with other conditions. Some of the conditions that overlap with LAL-D are: NAFLD, NASH, metabolic syndrome, FCH, HeFH, and early cardiovascular disease.

Talk to your doctor if you are experiencing some of these common symptoms that may signal LAL-D:

Distended abdomen

Stomach pain and/or cramps

Nausea

Frequent Vomiting

Frequent/watery diarrhea

Constipation

Fever

Tiredness

Yellow discoloration of skin

Frequent nosebleeds

Elevated liver enzyme

High bad (LDL) cholesterol

Low good (HDL) cholesterol

Other symptoms

Early Diagnosis is Key

In infants, LAL-D causes severe malabsorption, growth failure, liver scarring, and liver failure. Without treatment, the average age of death in infants with LAL-D is between 3 and 4 months. It has also been shown that children and adults with LAL-D can progress to liver scarring, liver failure, and other severe complications. 

Early management of your disease may reduce your risk of serious complications in the future. Talk with your doctor about the best way to manage your disease.