Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey

Jörg Jahnel, Evelyn Zöhrer, Björn Fischler, Lorenzo D'Antiga, Dominique Debray, Antal Dezsofi, Dorothea Haas, Nedim Hadzic, Emmanuel Jacquemin, Thierry Lamireau, Giuseppe Maggiore, Pat J McKiernan, Pier Luigi Calvo, Henkjan J Verkade, Loreto Hierro, Valerie McLin, Ulrich Baumann, Emmanuel Gonzales*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Objective: Inborn errors of primary bile acid (BA) synthesis are genetic cholestatic disorders leading to accumulation of atypical BA with deficiency of normal BA. Unless treated with primary BA, chronic liver disease usually progresses to cirrhosis and liver failure before adulthood. We sought to determine the prevalence of 2 common disorders, 3 beta-hydroxy-Delta(5)-C-27-steroid dehydrogenase (3 beta-HSD) and Delta(4)-3-oxosteroid-5 beta-reductase (Delta(4)-3-oxoR) deficiencies and to describe current diagnostic and treatment strategies among different European paediatric hepatology centres.

Methods: A total of 52 clinical paediatric centres were approached and 39 centres in 21 countries agreed to participate in the Web-based survey. The survey comprised questions regarding general information, number of cases, diagnostic, and therapeutic management.

Results: Seventeen centres located in 11 countries reported patients with inborn errors in primary BA synthesis, 22 centres never had cases diagnosed. In total, we could identify 63 patients; 55 with 3 beta-HSD and 8 with Delta(4)-3-oxoR deficiency in 21 countries. The minimum estimated combined prevalence of these diseases was 1.13 cases per 10 million (0.99 and 0.14 for 3 beta-HSD and Delta(4)-3-oxoR deficiencies, respectively). The surveyed colleagues indicated their main challenges to be the rarity of diseases and the lack of convenient laboratory facilities nearby.

Conclusion: We have identified the largest cohort of patients with 3 beta-HSD or Delta(4)-3-oxoR deficiency described so far. These diseases are likely underdiagnosed mainly due to unawareness of their existence and the lack of laboratory facilities.

Original languageEnglish
Pages (from-to)864-868
Number of pages5
JournalJournal of Pediatric Gastroenterology and Nutrition
Issue number6
Publication statusPublished - 1-Jun-2017


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