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