Liver
86%1, ii

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

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

Hypoalbuminemia5

Malabsorption1

GI bleeding2

Gallbladder dysfunction1

Abdominal and epigastric pain1

Emesis1

Diarrhea1

Steatorrhea1

Spleen
36%1, ii

PT/PTT INR4,6,iii

Anemia1

Thrombocytopenia7

Splenomegaly1

Hypersplenism8

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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