Title

Acute Hepatic Porphyria and Liver Cancer Screening

Authors

Minh Tran, MD, Joseph Orndoff, DO, Huynkyoung Kim, MS, Karl E. Anderson, MD

Introduction

Acute hepatic porphyria (AHP) is a set of rare genetic disorders associated with increased risk for primary liver cancer. Due to this risk, patients with AHP above age 50 are generally recommended to receive at least annual imaging surveillance. We sought to determine the hepatocellular carcinoma (HCC) screening rate of AHP patients at our institution and identify predictors that affect screening rates.

Methods

Patients seen at the University of Texas Medical Branch (UTMB) and diagnosed with AHP were included in this pilot study. Patients lost to follow up or deceased from unrelated causes were excluded. Chart review and a phone survey were performed to assess the imaging surveillance rate within the past year. The numbers with liver cancer or liver transplant were also assessed. Multivariate analysis was performed to identify predictors that affect the rates of HCC surveillance in AHP.

Results

Forty patients were included in our study. 38 patients had acute intermittent porphyria (AIP) and 2 had variegate porphyria (VP). Most patients were Caucasian females. 40% of all patients and 46% of patients above 50 participated in surveillance and had received screening imaging. One patient was clinically suspected to have primary liver cancer. One patient received liver transplant for frequent attacks of porphyria. There were no predictors in our smaller patient cohort that showed statistically significant correlation with surveillance.

Conclusion

In summary, AHP patients are at increased risk for liver cancer development. Our study showed a low rate of HCC surveillance in AHP patients. We were not able to identify statistically significant predictors in our study to improve HCC screening rate in AHP, which was likely due to the small sample size. Studies have shown the benefit of outreach in increasing the rate of HCC surveillance. Efforts should be made to improve the HCC surveillance rate and increase liver tumor detection in this vulnerable population.

References

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