The digestive function of children with Wolman disease, a very severe form of lysosomal acid lipase deficiency (LAL-D), remains fragile despite treatment, according to a study presented at the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 54th Annual Meeting.
In patients with cholesteryl ester storage disease (CESD), which is a more insidious form of the disease seen in older patients, intestinal involvement may be less severe or even absent.
“In both types of LAL-D, long term monitoring of the liver with protocol biopsies is recommended, as the evolution of this very rare disease on enzyme replacement therapy is unknown,” the authors of the study said.
To analyze the long-term evolution of the digestive, nutritional, and liver functions of patients with LAL-D who were treated with enzyme replacement therapy and to screen for nutritional deficiencies or growth failure, a team of researchers led by Florence Lacaille, MD, from Necker-Enfants Malades Hospital in Paris, France followed all children with LAL-D who were treated with the enzyme replacement therapy sebelipase alfa at their hospital for 2 years.
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During the study period, 5 patients with Wolman disease and 8 patients with CESD were treated with sebelipase alfa.
In 4 patients with Wolman disease who underwent upper gastrointestinal endoscopy, white duodenal villi were observed and pathological analysis revealed an intense duodenal infiltrate of foamy macrophages and smaller bulky vacuoles in the enterocytes after a minimum of 2 years of sebelipase alfa treatment. In 3 patients who underwent liver biopsy, severe steatosis, variable portal fibrosis, and mild inflammation were observed.
For patients with CESD, the lipid and liver profiles had improved and liver function had stabilized at the last follow-up. There were no liver events such as ascites, bleeding, or transplantation. The upper gastrointestinal endoscopy results were normal in 1 patient who underwent the procedure.
The presence of liver fibrosis “makes the future uncertain” in young patients with Wolman disease, the researchers said, adding that “nutritional deficiencies should be screened regularly” in patients with CESD.
Payen E, Brassier A, Arnoux JB, et al. Nutritional, digestive and liver evolution of patients with lysosomal acid lipase deficiency treated with sebelipase alfa. Abstract presented at: European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) 54th Annual Meeting; June 22-25, 2022; Copenhagen, Denmark.