Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients. A 69-year-old Japanese male patient was referred to our hospital for evaluation...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2015/917818 |
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| author | Yujiro Nishioka Nobuhisa Akamatsu Yasuhiko Sugawara Junichi Kaneko Junichi Arita Yoshihiro Sakamoto Kiyoshi Hasegawa Norihiro Kokudo |
| author_facet | Yujiro Nishioka Nobuhisa Akamatsu Yasuhiko Sugawara Junichi Kaneko Junichi Arita Yoshihiro Sakamoto Kiyoshi Hasegawa Norihiro Kokudo |
| author_sort | Yujiro Nishioka |
| collection | DOAJ |
| description | Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients. A 69-year-old Japanese male patient was referred to our hospital for evaluation of hepatic vascular malformations. He had mild anemia with iron deficiency, and dynamic contrast-enhanced computed tomography revealed significant arteriovenous and arterioportal shunts throughout the liver. Telangiectasia from the pharynx to the duodenum was confirmed by gastrointestinal endoscopy. The patient history revealed episodes of epistaxis as well as a family history of epistaxis. He was diagnosed with HHT, although no other family member had been diagnosed with definite HHT. A diagnosis of HHT must be considered in patients with hepatic vascular malformations. |
| format | Article |
| id | doaj-art-57ef7580cfed42a2b10c381b42394909 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-57ef7580cfed42a2b10c381b423949092025-02-03T01:28:59ZengWileyCase Reports in Medicine1687-96271687-96352015-01-01201510.1155/2015/917818917818Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular MalformationsYujiro Nishioka0Nobuhisa Akamatsu1Yasuhiko Sugawara2Junichi Kaneko3Junichi Arita4Yoshihiro Sakamoto5Kiyoshi Hasegawa6Norihiro Kokudo7Hepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanHepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanHepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanHepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanHepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanHepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanHepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanHepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, JapanHereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients. A 69-year-old Japanese male patient was referred to our hospital for evaluation of hepatic vascular malformations. He had mild anemia with iron deficiency, and dynamic contrast-enhanced computed tomography revealed significant arteriovenous and arterioportal shunts throughout the liver. Telangiectasia from the pharynx to the duodenum was confirmed by gastrointestinal endoscopy. The patient history revealed episodes of epistaxis as well as a family history of epistaxis. He was diagnosed with HHT, although no other family member had been diagnosed with definite HHT. A diagnosis of HHT must be considered in patients with hepatic vascular malformations.http://dx.doi.org/10.1155/2015/917818 |
| spellingShingle | Yujiro Nishioka Nobuhisa Akamatsu Yasuhiko Sugawara Junichi Kaneko Junichi Arita Yoshihiro Sakamoto Kiyoshi Hasegawa Norihiro Kokudo Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations Case Reports in Medicine |
| title | Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations |
| title_full | Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations |
| title_fullStr | Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations |
| title_full_unstemmed | Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations |
| title_short | Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations |
| title_sort | hereditary hemorrhagic telangiectasia with hepatic vascular malformations |
| url | http://dx.doi.org/10.1155/2015/917818 |
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