Hepatosplenomegaly and severe hypercholesterolemia in 18-year-old female patient

1. Маевская М. В., Ивашкин В. Т., Жаркова М. С., Некрасова Т. П., Аюшева Г. И., Масленников Р. В. Редкие формы неалкогольной жировой болезни печени: наследственный дефицит лизосомной кислой липазы. Рос журн гастроэнтерол гепатол колопроктол 2016; 26(3):41-51.

2. Bernstein D. L., Hulkova H., Bialer M. G., Desnick R. J. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013;58:1230e-43.

3. Burton B. K., Balwani M., Feillet F. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med 2015;373:1010-20. DOI: 10.1056/ NEJMoa1501365.

4. Hulkova H., Elleder M. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopathology 2012;60:1107-13.

5. Reiner Z., Guardamagna O., Nair D. et al. Lysosomal acid lipase deficiency - an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis 2014; 235: 21-30.

6. Vom Dahl S., Harzer K., Rolfs A., Albrecht B., Niederau C., Vogt C., van Weely S., Aerts J., Müller G., Häussinger D. Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitoriosidase activity and a homozymous lysosomal acid lipase -1 exon 8 splice junction mutation. J Hepatol 1999;31:741-6.