# A Rare Case of Hereditary Hemochromatosis Presenting As Hyperbilirubinemia

## TL;DR

A 50-year-old woman with no prior health issues was diagnosed with a rare form of hereditary hemochromatosis after presenting with jaundice and high bilirubin levels.

## Contribution

This case highlights a rare non-HFE-related hereditary hemochromatosis presentation with hyperbilirubinemia as the primary symptom.

## Key findings

- The patient had significantly elevated bilirubin and iron levels, with imaging showing liver and ascites changes.
- Liver biopsy confirmed iron deposits, and genetic testing ruled out common HFE mutations.
- The patient was started on phlebotomy, with liver transplant considered as a potential treatment.

## Abstract

Hemochromatosis is a condition marked by excessive iron accumulation, causing dysfunction in various organs. A 50-year-old woman, previously in good health, reported abdominal pain and yellowing of the skin and eyes for one month. Upon examination, she exhibited widespread jaundice, leg swelling, and abdominal distention. Her total bilirubin level was 24.52 mg/dL at admission, indicating hyperbilirubinemia. Imaging studies, including USG and CT scans, revealed mild to moderate ascites and altered liver texture. Elevated serum ferritin (1443 ng/mL) and transferrin saturation (84%) suggested iron overload. A liver biopsy confirmed the presence of iron deposits in hepatocytes, leading to a diagnosis of hemochromatosis. Genetic testing was negative for the C282Y and H63D mutations, resulting in a diagnosis of non-homeostatic iron regulator (non-HFE) related hereditary hemochromatosis. The patient began weekly phlebotomy and was monitored regularly, with a liver transplant being considered as a potential treatment.