Behnam Saberi1, Hetanshi Naik2, Jessica R Overbey3, Angelika L Erwin4, Karl E Anderson5, D Montgomery Bissell6, Herbert L Bonkovsky7, John D Phillips8, Bruce Wang6, Ashwani K Singal9,10, Brendan M McGuire11, Robert J Desnick2, Manisha Balwani2. 1. Division of Liver Diseases, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY. 2. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. 3. Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY. 4. Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH. 5. Department of Preventive Medicine and Population Health, University of Texas Medical Branch, Galveston, TX. 6. Department of Medicine, University of California, San Francisco, CA. 7. Section on Gastroenterology and Hepatology, Department of Internal Medicine, Wake Forest/NC Baptist Medical Center, Winston-Salem, NC. 8. Department of Internal Medicine, University of Utah, Salt Lake City, UT. 9. Department of Internal Medicine, University of South Dakota, Sioux Falls, SD. 10. Division of Hepatology, Avera Transplant Institute, Sioux Falls, SD. 11. Department of Medicine, University of Alabama, Birmingham, AL.
Abstract
BACKGROUND AND AIMS: The risk for hepatocellular carcinoma (HCC) is increased in acute hepatic porphyrias (AHP). The aim of this study was to explore the clinicopathologic characteristics, outcomes, and frequency of HCC in patients with AHP in the United States. APPROACH AND RESULTS: This cross-sectional analysis evaluated patients with HCC in a multicenter, longitudinal study of AHP. Among 327 patients with AHP, 5 (1.5%) were diagnosed with HCC. Of the 5 HCC cases, 4 had acute intermittent porphyria and 1 had variegate porphyria, confirmed by biochemical and/or genetic testing. All patients were white females, with a median age of 27 years (range 21-75) at diagnosis. The median age at HCC diagnosis was 69 years (range 61-74). AHP was asymptomatic in 2 patients; 2 reported sporadic attacks; and 1 reported recurrent attacks (>4 attacks/year). All patients had a single HCC lesion on liver imaging that was 1.8-6.5 centimeters in diameter. Serum alpha fetoprotein levels were below 10 ng/mL in all 4 patients with available results. Four patients underwent liver resection, and 1 was treated with radioembolization. No significant inflammation or fibrosis was found in adjacent liver tissues of 3 patients who underwent liver resection. Two patients developed recurrence of HCC at 22 and 26 months following liver resection. All patients are alive with survival times from HCC diagnosis ranging from 26-153 months. CONCLUSION: In this U.S. study, 1.5% of patients with AHP had HCC. HCC in AHP occurred in the absence of cirrhosis, which contrasts with other chronic liver diseases. Patients with AHP, regardless of clinical attacks, should be screened for HCC, beginning at age 50. The pathogenesis of hepatocarcinogenesis in AHP is unknown and needs further investigation.
BACKGROUND AND AIMS: The risk for hepatocellular carcinoma (HCC) is increased in acute hepatic porphyrias (AHP). The aim of this study was to explore the clinicopathologic characteristics, outcomes, and frequency of HCC in patients with AHP in the United States. APPROACH AND RESULTS: This cross-sectional analysis evaluated patients with HCC in a multicenter, longitudinal study of AHP. Among 327 patients with AHP, 5 (1.5%) were diagnosed with HCC. Of the 5 HCC cases, 4 had acute intermittent porphyria and 1 had variegate porphyria, confirmed by biochemical and/or genetic testing. All patients were white females, with a median age of 27 years (range 21-75) at diagnosis. The median age at HCC diagnosis was 69 years (range 61-74). AHP was asymptomatic in 2 patients; 2 reported sporadic attacks; and 1 reported recurrent attacks (>4 attacks/year). All patients had a single HCC lesion on liver imaging that was 1.8-6.5 centimeters in diameter. Serum alpha fetoprotein levels were below 10 ng/mL in all 4 patients with available results. Four patients underwent liver resection, and 1 was treated with radioembolization. No significant inflammation or fibrosis was found in adjacent liver tissues of 3 patients who underwent liver resection. Two patients developed recurrence of HCC at 22 and 26 months following liver resection. All patients are alive with survival times from HCC diagnosis ranging from 26-153 months. CONCLUSION: In this U.S. study, 1.5% of patients with AHP had HCC. HCC in AHP occurred in the absence of cirrhosis, which contrasts with other chronic liver diseases. Patients with AHP, regardless of clinical attacks, should be screened for HCC, beginning at age 50. The pathogenesis of hepatocarcinogenesis in AHP is unknown and needs further investigation.
Authors: Juan Buendía-Martínez; María Barreda-Sánchez; Lidya Rodríguez-Peña; María Juliana Ballesta-Martínez; Vanesa López-González; María José Sánchez-Soler; Ana Teresa Serrano-Antón; María Elena Pérez-Tomás; Remedios Gil-Ferrer; Francisco Avilés-Plaza; Guillermo Glover-López; Carmen Carazo-Díaz; Encarna Guillén-Navarro Journal: Orphanet J Rare Dis Date: 2021-02-27 Impact factor: 4.123