title: Definite hereditary hemorrhagic telangiectasia in a 60-year-old black Kenyan woman: a case report.
abstract: BACKGROUND
  Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease characterized by vascular dysplasia. To the best of our knowledge, we report the first case in the literature of definite hereditary hemorrhagic telangiectasia diagnosed in western Kenya, a resource-limited setting with limited treatment options.
  
  
  METHODS
  A 60-year-old black Kenyan woman was admitted 1 year ago to a hospital in western Kenya with an 11-year history of recurrent spontaneous epistaxis. Her physical examination revealed that she had telangiectasias on the tongue and hard palate, severe pallor, and hepatomegaly. A chest radiograph revealed right middle lobe opacity. After a positive saline contrast echocardiography, she underwent contrast-enhanced chest computed tomography, which revealed a large pulmonary arteriovenous malformation and multiple hepatic arteriovenous malformations. Therefore, she fulfilled criteria for definite hereditary hemorrhagic telangiectasia. She was managed with nasal packing, tranexamic acid, oral ferrous sulfate, and blood transfusions, as other treatment options were unavailable in this setting.
  
  
  CONCLUSIONS
  This rare case of hereditary hemorrhagic telangiectasia demonstrates that it occurs in an African population and that diagnostic challenges in resource-limited settings can be surmounted. Treatment options remain limited in these settings.
authors.affiliation: Department of Internal Medicine, College of Health Sciences, School of Medicine, Moi University, P.O Box 4606, Eldoret, Kenya. joankiyeng@gmail.com.
authors.forename: Joan Chepkorir
authors.initials: JC
authors.lastname: Kiyeng
authors.affiliation: Department of Internal Medicine, College of Health Sciences, School of Medicine, Moi University, P.O Box 4606, Eldoret, Kenya.
authors.forename: Abraham
authors.initials: A
authors.lastname: Siika
authors.affiliation: Department of Internal Medicine, College of Health Sciences, School of Medicine, Moi University, P.O Box 4606, Eldoret, Kenya.
authors.forename: Cornelius
authors.initials: C
authors.lastname: Koech
authors.affiliation: Division of Cardiology, Duke University Medical Center, 2400 Pratt Street, Durham, NC, 27705, USA.
authors.forename: Gerald S
authors.initials: GS
authors.lastname: Bloomfield
mesh_terms: D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D001164:Arteriovenous Fistula / Q000000981:diagnostic imaging* / Q000209:etiology; D001165:Arteriovenous Malformations / Q000000981:diagnostic imaging* / Q000209:etiology; D001803:Blood Transfusion; D058128:Compression Bandages; D004452:Echocardiography; D004844:Epistaxis / Q000209:etiology / Q000628:therapy*; D005260:Female; D005296:Ferrous Compounds / Q000627:therapeutic use; D006397:Hematinics / Q000627:therapeutic use; D006499:Hepatic Artery / Q000000981:diagnostic imaging; D006503:Hepatic Veins / Q000000981:diagnostic imaging; D006801:Humans; D007630:Kenya; D008099:Liver / Q000098:blood supply / Q000000981:diagnostic imaging*; D008875:Middle Aged; D011651:Pulmonary Artery / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011667:Pulmonary Veins / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed; D014148:Tranexamic Acid / Q000627:therapeutic use
chemical_list: D000933:Antifibrinolytic Agents; D005296:Ferrous Compounds; D006397:Hematinics; C020748:ferrous sulfate; D014148:Tranexamic Acid
keywords: Arteriovenous malformations; Epistaxis; Hereditary hemorrhagic telangiectasia