What are the signs and symptoms
The LAL enzyme plays a central role in breaking down certain fats and cholesterol. When there is a decrease or loss of the LAL enzyme, lipids and cholesterol do not get processed and get deposited in different tissues and organs. This storage causes continuous damage that can affect the function of many organs throughout the body.1
Historically known as Wolman disease (in infants) or cholesteryl ester storage disease (in children and adults) it is now recognised as a single condition with a common underlying pathology.2 These names are still sometimes used to distinguish between the age range of diagnosis of LAL-D.
Historically known as Wolman disease (in infants) or cholesteryl ester storage disease (in children and adults) it is now recognised as a single condition with a common underlying pathology.2 These names are still sometimes used to distinguish between the age range of diagnosis of LAL-D.
In paediatrics and adults, later onset LAL-D has a more variable clinical course than in infants. In paediatrics, the mean age at symptom onset is 5 years.2 In adults, LAL-D can progress without any obvious signs and symptoms and may not be diagnosed until later in life.1,2
In paediatrics and adults, signs and symptoms of LAL-D include:2
In paediatrics and adults, signs and symptoms of LAL-D include:2
- Diarrhoea
- Abdominal pain
- Vomiting
- Anaemia
- Malabsorption
- Poor growth
- Gallbladder dysfunction
- Enlarged liver (hepatomegaly)
- Enlarged liver and spleen (hepatosplenomegaly)
- Liver disease (cholestasis)
- Premature coronary artery disease
- Stroke
In the less common and more severe, early-onset form of LAL-D, lipids accumulate throughout the body, particularly in the liver, within the first few months of life.3 Infants with early-onset LAL-D develop severe malabsorption and growth failure and generally do not survive beyond 6 months of age if not treated.1,2,3,4
In infants, signs and symptoms of LAL-D include:2,4
In infants, signs and symptoms of LAL-D include:2,4
- Diarrhea
- Vomiting
- Malabsorption
- Growth failure
- Enlarged liver and spleen (hepatosplenomegaly)
- Liver scarring (fibrosis and cirrhosis)
- Liver failure
- Systemic inflammation
LAL-D, like other rare diseases, can take many years to diagnose because it shares symptoms with many other conditions.1,2
Managing LAL-D
LAL-D can be diagnosed by demonstrating deficient LAL activity or mutations in the LIPA gene.1 The level of LAL-D activity is determined using an enzyme-based blood test.1 Genetic testing enables characterisation...
What is LAL-D?
Lysosomal acid lipase deficiency (LAL-D) is a rare, progressive, and inherited condition caused by mutations in the LIPA gene which is responsible for the production of the lysosomal acid lipase (LAL) enzyme. LAL-D...
Complications associated with LAL-D
LAL-D affects many vital organs, such as the liver, cardiovascular system, spleen and the gastrointestinal tract. In fact, most people with LAL-D experience complications in more than one organ system: Liver LAL-D is a...
LAL, lysosomal acid lipase; LAL-D, lysosomal acid lipase deficiency.