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].
- 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.