Manifestations
Liver
86%1, ii
Liver
Elevated ALT2
Elevated bilirubin1
Esophageal varices1,2
Ascites1
Cholestasis2
Microvesicular or mixed hepatic steatosis2
Cholesteryl ester (CE) crystal deposits1,2
Hepatomegaly2
Jaundice2
Fibrosis and/or cirrhosis2
Portal hypertension2
Liver failure2
Hepatocellular carcinoma1
Cholangiocarcinoma3
Cardiovascular
87%1, ii
Cardiovascular
High LDL-c2
Low HDL-c2
Elevated triglycerides (TGs)2
Elevated low density lipoprotein particle (LDL-p) number4
Elevated ApoB4
Low ApoA14
Accelerated atherosclerosis1
Coronary artery disease/CHD1
Stroke or suspected stroke1
Myocardial infarction1
Ischemia1
Aneurysm1
Gastrointestinal (GI)
22%1, ii
Gastrointestinal (GI)
Hypoalbuminemia5
Malabsorption1
GI bleeding2
Gallbladder dysfunction1
Abdominal and epigastric pain1
Emesis1
Diarrhea1
Steatorrhea1
Spleen
36%1, ii
Spleen
PT/PTT INR4,6,iii
Anemia1
Thrombocytopenia7
Splenomegaly1
Hypersplenism8
Other
Other
Adrenal calcification1,2
Adrenocortical insufficiency7
Failure to thrive1,2
Growth retardation2,9
Short stature9
Delayed puberty11
Cachexia1,2
79%
of patients [38 out of 48] who showed manifestations in more than one organ were 19 years of age or younger1,ii
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