2025 – PAGE 230 – GASTROENTEROLOGY

DUBIN JOHNSON SYNDROME

In Dubin Johnson Syndrome, there is a DIRECT hyperbilirubinemia. It is benign and relapsing. Most common in the teenage years presenting as nonpruritic jaundice without any other significant symptoms or pathology.

 MNEMONIC: DuBin Johnson = D for Direct, B for Benign.

REYE’S SYNDROME (AKA REYES SYNDROME)

Reyes syndrome is an acute non-inflammatory encephalopathy associated with liver function abnormalities. It is rare. Look for a recent viral URI or varicella infection in the setting of aspirin use. Symptoms will include encephalopathy, possible coma, abnormal LFTs, possibly an elevated PT, and hyperammonemia.

PEARL: This disease only occurs once in a patient’s life.

(DOUBLE TAKE) WILSON’S DISEASE

Wilson Disease (AKA Wilson’s Disease) is an autosomal recessive disorder resulting in excess copper accumulation, especially within the liver and brain. Accumulation in the liver can lead to hepatomegaly, spider nevi, esophageal varices, and a Coombs-negative hemolytic anemia. Accumulation in the brain can lead to neurologic changes including tremors, poor school performance, ataxia, abnormal eye movements, and spasms. On eye exam, a Kayser-Fleischer ring may be visible. Copper levels are low in the serum but high in the tissues. Diagnose by LIVER BIOPSY. Treat with PENICILLAMINE, a copper chelator.

PEARLS: Diagnose by LIVER BIOPSY. Abnormal eye movements and a Fleischer ring may be present, but there is no visual disturbance. Kayser-Fleischer rings are seen in 90% of symptomatic patients, and almost 100% of patients with neurologic manifestations. Screen family members with CERULOPLASMIN levels. Ceruloplasmin is made in the liver and is the primary copper-carrying protein. If the level is LOW, that suggests Wilson’s Disease because excess copper is not being incorporated into ceruloplasmin, and is therefore still in the TISSUES. Therefore, supportive labs may include a low serum ceruloplasmin, high tissue copper levels, high urine copper levels and low serum copper levels.

IMAGE: www.pbrlinks.com/WILSONS1
IMAGE: www.pbrlinks.com/WILSONS2

MNEMONICS: Treat with a “COPPER PENNY-cillamine.” Also, ever heard of Wilsons, the leather company that makes baseball gloves? See the image below to note the strong resemblance in color to a COPPER PENNY. This should help you remember that Wilsons Disease has to do with copper, and that it is treated with “PENNY-cillamine.”