Complications associated with LAL-D | 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:

LAL-D is a progressive disorder that often results in liver damage. Over time, liver dysfunction progresses to fibrosis and cirrhosis.^1,2 Fibrosis is the first stage of liver scarring. Later, if more of the liver becomes scarred, it is known as liver cirrhosis.

Many patients with LAL-D have high amounts of “bad” cholesterol (LDL or low-density lipoprotein cholesterol) and low amounts of “good” cholesterol (HDL or high-density lipoprotein cholesterol), which can lead to premature atherosclerosis (hardening of the arteries), heart attacks, and stroke.^1,2

Many patients with LAL-D also suffer from an enlarged spleen (splenomegaly).^1,2 This can lead to anaemia, due to a reduced number of red blood cells; an increased risk of infection, due to a reduced number of white blood cells and bleeding.

Progressive gastrointestinal damage caused by LAL-D can result in serious complications such as abdominal pain, malabsorption, gallbladder problems, gastrointestinal bleeding and diarrhoea.^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...

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...

LAL, lysosomal acid lipase; LAL-D, lysosomal acid lipase deficiency; LDL, low-density lipoprotein; HDL, high-density lipoprotein.

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

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.