Dyskeratosis Congenita Complicated by Hepatic Fibrosis With Hepatic Vein Thrombosis

Hideki Yoshida, Toshihiko Imamura, Kenichi Sakamoto, Daisuke Asai, Takuya Nakatani, Akira Morimoto, Hajime Hosoi
In: Journal of Pediatric Hematology/Oncology · 2013 · vol. 36(4) , pp. 308–311 · doi:10.1097/mph.0000000000000001 · PMID:24136024 · W2057542389
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This case report details two brothers with dyskeratosis congenita and no identified genetic cause, one of whom developed hepatic fibrosis and thrombosis, highlighting the need for further research into DC's hepatic complications.

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Abstract

We describe the case of 2 male siblings with dyskeratosis congenita (DC). Extensive genetic analysis failed to identify a causative genetic abnormality. The elder brother developed hepatic fibrosis accompanied with hepatic vein thrombosis at the age of 9 years. Recent studies have found that patients with DC sometimes develop hepatic complications, including cirrhosis. However, little is known about hepatic complications in patients with DC who lack these mutations. Further genetic studies are required to understand the relationship between DC and hepatic complications. In addition, although danazol can sometimes be effective for treating bone marrow failure, hepatotoxicity can be a major complication. Therefore, when danazol is administered to patients with DC, careful monitoring for hepatic complications is important.

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last seen: 2026-05-11T06:37:04.871248+00:00
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