Wolman Disease with a Low Cholesterol Level: An Unusual Laboratory Finding

Abstract

Wolman disease is a very rare autosomal recessive genetic disorder. The patients have the typical clinical finding of hepatosplenomegaly but with an abnormal lipid profile of high levels of total cholesterol (TC), triglycerides, and low-density lipoprotein cholesterol (LDL-C), but a low level of high-density lipoprotein cholesterol (HDL-C). We report a 1-month-old boy with Wolman disease who had hepatosplenomegaly but with an atypical abnormal lipid profile of low TC level, and very low levels of both LDL-C and HDL-C. The genetic study revealed a compound heterozygous mutation of the LIPA gene, leading to the confirmed diagnosis of Wolman disease.

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease

“…In line with the importance of LAL enzyme, both Reiner et al and Koranantakul et al have reported that the lack of this enzyme leads to the accumulation of both CEs and TGs in different body organs causing several cellular damages such as in the liver (microvacuolar steatosis, increased transaminase levels, fibrosis, and cirrhosis), cardiovascular system, and spleen (splenomegaly), and gastrointestinal disturbances including diarrhea and abdominal pain are related to lipid accumulation in the intestinal mucosa (Reiner et al 2014 ; Koranantakul et al 2021 ; Patrick and Lake 1969 ).…”