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Рандью-Вебер-Ослерийн хамшинж, Хэвшинж 2-ын тохиолдол
Зохиогч
Ц.Одгэрэл
Ц.Оюунчимэг
Ш.Цолмон
А.Хатанбаатар
Он
2020 оны тавдугаар сарын 1
Төрөл
journal article
Journal
Эрүүл мэндийн шинжлэх ухаан
Volume
16
Issue
2
Start Page
115
End Page
117
ISSN
2959-6947
Хураангуй
Introduction: Hereditary hemorrhagic telangiectasia (HHT) also known as Osler-Weer-Rendu disease, is an autosomal dominant disorder characterized by multiple mucocutoneous telangioectasia. Abnormal arteriovenous malformations in HHT leads to recurrent epistaxix, nazal and gastrointestinal bleeding which causes iron deficiency anemia. Pulmonary and intracereral bleeding are rare complication in HTT. Purpose: To present a case of Randu-Osler-Weber disease associated with iron deficiency anemia. Materials and methods: According to the complains, mucocutoneous changes and signs revealed by physical examination, the patient was suspected for Osler-Weber-Randu syndrome. Diagnose was confirmed by genetic testing.. Case presentation: 52 years old female came to our clinic with a complain of recurrent epistaxis, fatigue and tiredness. On physical examination, many mat-like telangiectasias were found on eye mucous, lip vermilions and tongue tip, all of which suggested diagnose of Randu-Osler-Weber syndrome. Endoscopic examination showed telangiectatic lesions were distributed on the mucosal surface of stomach and she had an episode of bleeding during gastroscopy 3 years ago. Mild hypochromic anemia was in complete blood count. CT revealed multiple patchy areas in her brain and ECHO suggested vessel malformations in liver. ACVRL 1 mutation was detected by genetic testing in the patient which confirmed type 2 of Randu-Osler-Weber disease. Conclusion: Epitaxis and bleeding from gastrointestinal tract is more common occured rather than mucocutenous teleagngioctasia in HTT. Recurrent bleeding leads to iron deficiency anemia. If these symptoms occur recurrently, doctors need to carefully check the patients’ blood vessels. э
Нэмэлт мэдээлэл
Бүрэн эх: https://journal.mnums.edu.mn/index.php/emsu/article/view/1404
Эшлэл
Ц.Одгэрэл, Ц.Оюунчимэг, Ш.Цолмон, А.Хатанбаатар. Рандью-Вебер-Ослерийн хамшинж, Хэвшинж 2-ын тохиолдол. Эрүүл мэндийн шинжлэх ухаан. 2020;16(2):115-117.