Wolman Disease with a Low Cholesterol Level: An Unusual Laboratory Finding
DOI:
https://doi.org/10.31584/jhsmr.2021803Keywords:
LIPA gene, lysosomal acid lipase deficiency, Wolman diseaseAbstract
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 lowdensity 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.
References
Hamosh A. Lysosomal acid lipase deficiency # 278000 [homepage on the Internet]. Baltimore: Johns Hopkins University; 2018 [cited 2020 Sep 14]. Available from: https:// www.omim.org/entry/278000
Wolman M, Sterk VV, Gatt S, Frenkel M. Primary familial xanthomatosis with involvement and calcification of the adrenals: report of two more cases in siblings of a previously described infant. Pediatrics 1961;28:742-57.
Aguisanda F, Thorne N, Zheng W. Targeting Wolman disease and cholesteryl ester storage disease: disease pathogenesis and therapeutic development. Curr Chem Genom Transl Med 2017; 11:1-18.
Jones SA, Valayannopoulos V, Schneider E, Eckert S, Banikazemi M, Bialer M, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med 2016;18: 452-8.
Ikari N, Shimizu A, Asano T. Lysosomal acid lipase deficiency in Japan: a case report of siblings and a literature review of cases in Japan. J Nippon Med Sch 2018;85:131-7.
Reiner Ž, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, et al. Lysosomal acid lipase deficiency - an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis 2014;235:21-30.
Lindquist S, Hernell O. Lipid digestion and absorption in early life: an update. Curr Opin Clin Nutr Metab Care 2010;13:314-20.
Delplanque B, Gibson R, Koletzko B, Lapillonne A, Strandvik B. Lipid quality in infant nutrition: current knowledge and future opportunities. J Pediatr Gastroenterol Nutr 2015;61:8-17.
Yanir A, Allatif MA, Weintraub M, Stepensky P. Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. Mol Genet Metab 2013;109:224-6.
Shirley M. Sebelipase alfa: first global approval. Drugs 2015; 75:1935-40.
Frampton JE. Sebelipase alfa: a review in lysosomal acid lipase deficiency. Am J Cardiovasc Drugs 2016;16:461-8.
Jones SA, Rojas-Caro S, Quinn AG, Friedman M, Marulkar S, Ezgu F, et al. Survival in infants treated with sebelipase alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study. Orphanet J Rare Dis 2017;12:25.
Downloads
Published
How to Cite
Issue
Section
License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
