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

Phawin Kor-anantakul; Thipwimol Tim-Aroon; Somchit Jaruratanasirikul

doi:10.31584/jhsmr.2021803

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

Phawin Kor-anantakul, Thipwimol Tim-Aroon, Somchit Jaruratanasirikul

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.

Keywords

LIPA gene; lysosomal acid lipase deficiency; Wolman disease

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DOI: http://dx.doi.org/10.31584/jhsmr.2021803

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