Iron deficiency anemia in a patient with hereditary hemorrhagic telangiectasia. Case report

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Abstract

Rendu–Osler–Weber disease or hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. It is characterized by vascular dysplasia with the formation of telangiectasias on the skin, mucous membranes of the respiratory and digestive tracts, arteriovenous malformations (AVMs) in the internal organs, which is manifested by bleeding. Diagnosis is based on Curacao criteria: recurrent and spontaneous nosebleeds, multiple telangiectases on the characteristic localizations, AVMs in one or more of the internal organs, a family history of HHT (i.e. first-degree relative who meets these same criteria for definite HHT). Therapy is aimed at preventing and stopping gastrointestinal, nosebleeds, correction of iron deficiency anemia. A promising method of therapy is the use of angiogenesis inhibitors, in particular bevacizumab. The article presents a description of a clinical case of HHT in a 49-year-old woman with telangiectisia on the mucous membrane of the tongue, gastrointestinal tract and liver AVMs.

About the authors

Maria A. Mozdon

National Medical Research Center for Hematology

Author for correspondence.
Email: mariamozdon@yandex.ru
ORCID iD: 0009-0008-1358-6203

клин. ординатор

Russian Federation, Moscow

Rodion V. Ponomarev

National Medical Research Center for Hematology

Email: mariamozdon@yandex.ru
ORCID iD: 0000-0002-1218-0796

канд. мед. наук, рук. сектора изучения неопухолевых заболеваний системы крови

Russian Federation, Moscow

Nina V. Tsvetaeva

National Medical Research Center for Hematology

Email: mariamozdon@yandex.ru
ORCID iD: 0000-0002-0977-215X

канд. мед. наук, ст. науч. сотр.

Russian Federation, Moscow

Aleksey V. Shabrin

City Clinical Hospital №17; Pirogov Russian National Research Medical University

Email: mariamozdon@yandex.ru
ORCID iD: 0000-0003-1901-6216

канд. мед. наук, клинический рук. отд. хирургии, доц. каф. госпитальной хирургии №2

Russian Federation, Moscow; Moscow

Evgeniya I. Ermachenkova

City Clinical Hospital №17

Email: mariamozdon@yandex.ru
ORCID iD: 0000-0003-1380-8423

врач-эндоскопист

Russian Federation, Moscow

Sergei E. Larichev

City Clinical Hospital №17; Pirogov Russian National Research Medical University

Email: mariamozdon@yandex.ru
ORCID iD: 0000-0003-1931-474X

д-р мед. наук, зам. глав. врача по хирургии, проф. каф. госпитальной хирургии №2

Russian Federation, Moscow; Moscow

Elena A. Lukina

National Medical Research Center for Hematology

Email: mariamozdon@yandex.ru
ORCID iD: 0000-0002-8774-850X

д-р мед. наук, проф., зав. отд. гематологии и химиотерапии орфанных заболеваний

Russian Federation, Moscow

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Supplementary files

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2. Fig. 1. Multiple telangiectasias of the tongue of patient Z.

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3. Fig. 2. Telangiectasias of the gastric mucosa of patient Z.

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4. Fig. 3. Arteriovenous malformations of the liver of patient Z. (MRI): frontal plane.

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5. Fig. 4. Telangiectasias of the jejunum, ileum of patient Z.

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6. Fig. 5. Ongoing low-intensity bleeding of the jejunum of patient Z.

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