Von Hippelundau Disease

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ID/CC

HP1 PE

Labs

Imaging

Gross Pathology Micro Pathology

Treatment Discussion

A 49-year-old male who is a known chronic alcoholic is brought to the emergency room with dehydration, jaundice, and fever; blood is drawn for routine tests, and he is infused with 5% dextrose, after which he becomes stuporous.

He had been admitted to the ER several times before for alcoholic gastritis and acute intoxication.

Patient confused and stuporous; normal fundus; nystagmus; skin and mucosal icterus; spider nevi on neck and upper chest; pitting pedal edema; abdominal distention with shifting dullness (= ASCITES); hepatosplenomegaly.

Increased serum bilirubin, predominantly direct; low serum albumin; increased serum AST and ALT (AST > ALT); markedly elevated gamma-glutamyl transferase (GGT); mildly elevated alkaline phosphatase; slightly prolonged PT; normal serum electrolytes and blood sugar; transudate revealed on ascitic fluid exam.

US/CT-Abdomen: hepatomegaly and splenomegaly with evidence of free fluid in peritoneal cavity.

Micronodular cirrhosis and fatty change of the liver.

Neutrophilic infiltrate; "Mallory hyaline bodies"; piecemeal necrosis and fibrosis surrounding central vein of portal triad on liver biopsy.

IV thiamine; complete abstinence from alcohol.

Caused by thiamine deficiency (most common cause is alcoholism). Alcoholics should receive thiamine before glucose to prevent this. p.235

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