It has been reported that some patients have been misdiagnosed with Cholesteryl Ester Storage Disease, when in fact the correct diagnosis in their specific case was Non-alcoholic Fatty Liver Disease (NAFLD).
Non-alcoholic fatty liver disease (NAFLD) also called steatosis, is the build-up of extra fat in liver that is not caused by alcohol. Symptoms include fatigue, pain and discomfort in the upper right abdomen, abdominal swelling from ascites (fluid build-up), enlarged blood vessels below the skin surface, enlarged spleen, red palms, yellowing of the skin and eyes from jaundice. Non-alcoholic fatty liver disease can be misdiagnosed as lysosomal acid lipase deficiency, and obesity can lead to a misdiagnosis of non-alcoholic fatty liver disease as the increased abdominal fat can create difficulties with sonography.