Year: 2024
Type: article
Study design: Case Report
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by epistaxis, gastrointestinal bleeding, iron deficiency anemia, and arteriovenous malformations (AVMs) affecting the lungs, liver, and brain. Owing to its rarity and diagnostic challenges, early identification is often elusive. Underdiagnosis and prolonged diagnostic delays are prevalent. Here, we present the case of a 63-year-old male who presented with chest pain and was diagnosed with an ST-elevation myocardial infarction (STEMI). Subsequently, he underwent placement of a drug-eluting stent in the right coronary artery (RCA). However, recurrent postoperative epistaxis resulted in severe anemia, prompting further investigation leading to the diagnosis of hereditary hemorrhagic telangiectasia through comprehensive medical history and genetic testing. Future studies are warranted to evaluate reperfusion strategies in HHT patients presenting with myocardial infarction.
Authors: Wenping Xue, Wei Qin, Tingting Liu, Weichao Shan
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,790
OpenAlex ID: W4403475991