SHM Converge Scientific Abstract ePoster Gallery-Painless Jaundice as a Rare Presentation of Hepatocellular Carcinoma in a Young Female With Turner Syndrome: A Case Report

Painless Jaundice as a Rare Presentation of Hepatocellular Carcinoma in a Young Female With Turner Syndrome: A Case Report

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This case report describes a 28-year-old woman with Turner syndrome and congenital portal hypertension, status post-TIPS, who presented with painless jaundice, early satiety, and nausea. Turner syndrome is associated with several hepatic abnormalities, including vascular lesions, steatosis, and nodular regenerative hyperplasia, but hepatocellular carcinoma (HCC) is exceptionally rare.<br /><br />On evaluation, her bilirubin was markedly elevated at 13.7 mg/dL and alpha-fetoprotein (AFP) was 3000 ng/mL. CT imaging revealed a large 17.2-cm heterogeneous mass occupying most of the liver, with fat and calcification, compressing the hepatic veins but without biliary obstruction. A transjugular liver biopsy confirmed well-differentiated HCC.<br /><br />The patient had no classic HCC risk factors such as viral hepatitis or alcohol use. Her presentation initially suggested obstructive or autoimmune liver disease, but further workup confirmed advanced malignancy. She was treated with palliative 5-fluorouracil and whole-liver radiation, but her disease progressed rapidly, leading to hepatic and renal failure. Because she was not a candidate for transplant or surgical resection, she was transitioned to hospice care.<br /><br />The report highlights that although benign liver disease is relatively common in Turner syndrome, malignant transformation to HCC can occur, even in young adults. It emphasizes the importance of maintaining a high index of suspicion when patients with genetic syndromes present with atypical cholestatic symptoms such as painless jaundice.

Asset Subtitle

Ruayda Bouls

Meta Tag

Author List Colton Jones, Ruayda Bouls, Vanessa Velazquez

Category Clinical Vignettes

Concept Turner Syndrome

Concept Hepatocellular Carcinoma

Concept Hepatobiliary Complication

Concept Vascular abnormality

Concept Hepatic Steatosis

Distinguished Non-Finalist

Presenter Organization Uthscsa

Presenting Author Ruayda Bouls

Track Adult

Keywords

Turner syndrome

hepatocellular carcinoma

painless jaundice

portal hypertension

TIPS

alpha-fetoprotein

liver mass

congenital liver disease

cholestasis

hepatic malignancy

Turner Syndrome

Hepatocellular Carcinoma

Hepatobiliary Complication

Vascular abnormality

Hepatic Steatosis