A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency

Abstract

Background. Lysosomal acid lipase deficiency (LAL-D), also known as cholesteryl ester storage disease or Wolman disease, is a multi-systemic autosomal recessive genetic disorder caused by mutations in the lysosomal acid lipase gene (LIPA). Case. A 14-year-old female patient was diagnosed as LAL-D with the findings of hepatomegaly, splenomegaly, elevated liver enzyme levels, and abnormal lipid profile. Her sister had similar laboratory and ultrasonographic findings. Both siblings had a homozygous c.894 G>A mutation in the LIPA gene, and their parents were heterozygous for this mutation. Conclusions. This case is one of the similar reports in the literature regarding clinical, biochemical, and genetic findings. It is well-known that LAL-D has overlapping clinical manifestations, and early diagnosis is quite challenging. Therefore, most patients die in the first year of life. After the determination of novel mutations in LAL-D patients, it is thought that LAL-D can present with heterogeneous signs and symptoms.

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program

“…The presence of the c.894G > A variant is associated with a milder clinical phenotype of LAL-D with slow progression of liver fibrosis and cirrhosis ( Lipiński et al, 2018 ). Rashu et al (2020) describe two adult LIPA compound heterozygous siblings for the c.894G > A and c.482del variants and Gürbüz et al (2020) report a 14-year-old and 3-year-old siblings with homozygous c.894G > A variant with persisting gastrointestinal symptoms (hepatosplenomegaly, malabsorption, and diarrhea, combined with elevated transaminases and dyslipidemia). A Columbian boy was confirmed with LAL-D with the c.893G > A variant in the LIPA gene at age 14 after isolated hepatomegaly and dyslipidemia at age 6 were detected ( Botero et al, 2018 ).…”