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.

In children and adults, later onset LAL-D has a more variable clinical course than in infants. In children, 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, up to the age of 44 years in men and 68 years in women [1,2].

In children 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 month 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].

In infants, signs and symptoms of LAL-D include [2]:

  • Diarrhea
  • Vomiting
  • Malabsorption
  • Growth failure
  • Enlarged liver and spleen (hepatosplenomegaly)
  • Liver scarring (fibrosis and cirrhosis)
  • Liver failure 

LAL-D, like other rare diseases, can take many years to diagnose because it shares symptoms with many other conditions [1,2].



1. Bernstein DL, Hülkova H, Bialer MG, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230-1243.

2. Reiner Ž, Guardamagna O, Nair D, et al. Lysosomal acid lipase deficiency — an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014;235(1):21-30.

3. Jones SA, Valayannopoulos V, Schneider E, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2016;18(3):452-8.