(256) A Case of Unveiled Hemochromatosis and Liver Cirrhosis Following Gender-Affirming Hormonal Therapy

Introduction: Testosterone plays a crucial role in female-to-male gender-affirming hormonal therapy (GAHT) and has been associated with elevated liver enzymes. However, the impact of testosterone in individuals with early-onset decompensated cirrhosis, hemochromatosis, and alcohol use disorder remains poorly understood due to the scarcity of such cases. This presentation aims to elucidate the potential consequences of testosterone in a transgender patient with undiagnosed hemochromatosis, resulting in early-onset liver failure.

Description: A 46-year-old transgender male with a medical history of liver cirrhosis, hereditary hemochromatosis, female-to-male GAHT, and hysterectomy due to cervical cancer presented with hematemesis, melena, and abdominal pain. He was hypotensive (93/47) with anemia (Hgb 7.2 gm/dL) and was then admitted to the ICU. After receiving 350 mL of RBCs, additional lab tests revealed elevated total bilirubin (4.4 mg/dL), decreased albumin (2.5 gm/dL), prolonged INR (1.56), and raised AST/ALT levels (52/67). Hepatitis labs were negative. CT abdomen showed cirrhotic portal hypertension and intra-abdominal ascites. An EGD revealed esophageal varices (grade I-II) with one red wale marked varix, treated with banding. Following stabilization, ascitic fluid was drained via US-guided paracentesis, and the patient received spironolactone and octreotide therapy. Notably, the patient has a 10-yr history of EtOH use and has been on testosterone therapy since 2015. However, due to deterioration in liver function, testosterone was discontinued in 2022. In 2018, elevated liver enzymes and iron studies prompted an in-depth evaluation, leading to the diagnosis of a single HFE gene mutation. A MELD score of 17 was calculated and the patient was referred to a liver transplant center.

Discussion: This case highlights the intricate interplay between GAHT and hepatic health in transgender patients, particularly when complicated by hemochromatosis. The significance of this clinical scenario emphasizes the need for further research to better comprehend the effects of testosterone on the liver, specifically in individuals with coexisting hemochromatosis. The insights gleaned from such investigations hold vital implications for patient care in similar challenging cases.