A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage
A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucos...
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| Veröffentlicht in: | Case reports in gastroenterology 2013-08, Vol.7 (2), p.340-346 |
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| creator | Ito, Junitsu Saito, Takafumi Numakura, Chikahiko Iwaba, Akiko Sugahara, Shinpei Ishii, Rika Sato, Chikako Haga, Hiroaki Okumoto, Kazuo Nishise, Yuko Watanabe, Hisayoshi Ida, Hiroyuki Hayasaka, Kiyoshi Togashi, Hitoshi Kawata, Sumio Ueno, Yoshiyuki |
| description | A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucosidase activity and common mutations of the glucocerebrosidase gene, L444P/D409H. We diagnosed the patient with Gaucher disease type 1. He underwent enzyme replacement therapy. Thrombocytopenia and hepatosplenomegaly improved at a rate of approximately 50 and 20%, respectively, within 6 months. This case suggests that we must pay attention to adult Gaucher disease as a differential diagnosis for cryptogenic thrombocytopenia. |
| doi_str_mv | 10.1159/000354725 |
| format | Article |
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Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucosidase activity and common mutations of the glucocerebrosidase gene, L444P/D409H. We diagnosed the patient with Gaucher disease type 1. He underwent enzyme replacement therapy. Thrombocytopenia and hepatosplenomegaly improved at a rate of approximately 50 and 20%, respectively, within 6 months. This case suggests that we must pay attention to adult Gaucher disease as a differential diagnosis for cryptogenic thrombocytopenia.</description><subject>Gaucher disease type 1</subject><subject>L444P/D409H</subject><subject>Published: August 2013</subject><subject>Rectal hemorrhage</subject><subject>Thrombocytopenia</subject><issn>1662-0631</issn><issn>1662-0631</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>M--</sourceid><sourceid>DOA</sourceid><recordid>eNptkd2L1DAUxYMo7rr64LtIwCcfRnPznRdhqDo7sCDI-BzS9mamazspaUeY_96O1bILPuWQ87vnJhxCXgP7AKDcR8aYUNJw9YRcg9Z8xbSApw_0FXkxDPeMackFPCdXXDJwRptrslvTIgxIU6Tr-tSOdHfukQLdhFN1wEw_NwNe_CJ1fdtUYcSalme6w65PObR0exxxGJvjJG-xSzkfwh5fkmcxtAO--nvekB9fv-yK29Xdt822WN-tKimsWgFabi2XpQ3SSTlpaetgKqYBnHIKY80rG6NxVrASjAkAEWpwIHDyjLgh2zm3TuHe97npQj77FBr_5yLlvQ95bKoWfSmkshaUVC5Io0OJqDQHHoVDBYJNWZ_mrP5UdlhXeByn_z0Kfewcm4Pfp19eGC2dvjzm_RxQ5TQMGeMyC8xfavJLTRP79uGyhfzXywS8mYGfIe8xL8Ay_-6_dvF9MxO-r6P4DQcloA8</recordid><startdate>20130816</startdate><enddate>20130816</enddate><creator>Ito, Junitsu</creator><creator>Saito, Takafumi</creator><creator>Numakura, Chikahiko</creator><creator>Iwaba, Akiko</creator><creator>Sugahara, Shinpei</creator><creator>Ishii, Rika</creator><creator>Sato, Chikako</creator><creator>Haga, Hiroaki</creator><creator>Okumoto, Kazuo</creator><creator>Nishise, Yuko</creator><creator>Watanabe, Hisayoshi</creator><creator>Ida, Hiroyuki</creator><creator>Hayasaka, Kiyoshi</creator><creator>Togashi, Hitoshi</creator><creator>Kawata, Sumio</creator><creator>Ueno, Yoshiyuki</creator><general>S. 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| subjects | Gaucher disease type 1 L444P/D409H Published: August 2013 Rectal hemorrhage Thrombocytopenia |
| title | A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage |
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