Kang LL, Zhang HD. Key role of Levitt’s carbon monoxide breath test in revealing coexistent Gilbert syndrome and erythropoietic protoporphyria: A case report. World J Clin Cases 2026; 14(1): 112880 [DOI: 10.12998/wjcc.v14.i1.112880]
Corresponding Author of This Article
Hou-De Zhang, MD, Department of Gastroenterology, Nanshan Hospital, Guangdong Medical University, No. 89 Taoyuan Road, Nanshan District, Shenzhen 518052, Guangdong Province, China. szkjk@126.com
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Hematology
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Case Report
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Jan 6, 2026 (publication date) through Jan 5, 2026
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World Journal of Clinical Cases
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2307-8960
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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Kang LL, Zhang HD. Key role of Levitt’s carbon monoxide breath test in revealing coexistent Gilbert syndrome and erythropoietic protoporphyria: A case report. World J Clin Cases 2026; 14(1): 112880 [DOI: 10.12998/wjcc.v14.i1.112880]
World J Clin Cases. Jan 6, 2026; 14(1): 112880 Published online Jan 6, 2026. doi: 10.12998/wjcc.v14.i1.112880
Key role of Levitt’s carbon monoxide breath test in revealing coexistent Gilbert syndrome and erythropoietic protoporphyria: A case report
Ling-Ling Kang, Hou-De Zhang
Ling-Ling Kang, Hou-De Zhang, Department of Gastroenterology, Nanshan Hospital, Guangdong Medical University, Shenzhen 518052, Guangdong Province, China
Author contributions: Zhang HD and Kang LL drafted and revised the manuscript. All authors have read and agreed to the published version of the manuscript.
Informed consent statement: Written informed consents for publication were obtained from patient.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hou-De Zhang, MD, Department of Gastroenterology, Nanshan Hospital, Guangdong Medical University, No. 89 Taoyuan Road, Nanshan District, Shenzhen 518052, Guangdong Province, China. szkjk@126.com
Received: August 8, 2025 Revised: September 30, 2025 Accepted: December 18, 2025 Published online: January 6, 2026 Processing time: 150 Days and 14.7 Hours
Abstract
BACKGROUND
It is challenging to diagnose isolated hyperbilirubinemia with rare and complex etiologies under the constraints of traditional testing conditions. Herein, we present a rare case of coexisting Gilbert syndrome (GS) and erythropoietic protoporphyria (EPP), which has not been previously documented.
CASE SUMMARY
We present a rare case of coexisting GS and EPP in a 23-year-old Chinese male with a long history of jaundice and recently found splenomegaly. Serial non-specific hemolysis screening tests yielded inconsistent results, and investigations for common hemolytic etiologies were negative. However, Levitt’s carbon monoxide breath test, which measures erythrocyte lifespan (the gold-standard marker of hemolysis), demonstrated significant hemolysis, revealing a markedly shortened erythrocyte lifespan of 11 days (normal average 120 days). Genetic testing subsequently confirmed EPP with a homozygous ferrochelatase gene mutation and GS with a heterozygous uridine diphosphate glucuronosyl transferase 1A1 gene mutation.
CONCLUSION
The rapid, non-invasive Levitt’s carbon monoxide breath test resolved the diagnostic challenge posed by a rare and complex cause of hyperbilirubinemia.
Core Tip: This first-reported case of coexisting Gilbert syndrome and erythropoietic protoporphyria highlights Levitt’s carbon monoxide breath test as a pivotal non-invasive tool for diagnosing rare and complex causes of hyperbilirubinemia. The test confirmed severely shortened red blood cell lifespan (11 days), resolving diagnostic uncertainty after conventional tests failed, and guided definitive genetic diagnosis of dual uridine diphosphate glucuronosyl transferase 1A1 and ferrochelatase mutations.
