Study of Hypoxic Factors in Adults with Hereditary Hemorrhagic Telangiectasia HHT

What this Trial Is About

Hereditary hemorrhagic telangiectasia HHT is an inherited disorder causing abnormal blood vessel formations leading to repeated bleeding and shunting, especially in organs like the liver, lungs, and brain. This research explores how factors triggered by low oxygen levels hypoxia might influence the disease process in HHT. The study focuses on how genetic mutations in certain pathways, combined with environmental factors like tissue injury, contribute to disease development and severity. The study involves two groups patients diagnosed with HHT and a control group of age- and sex-matched individuals without HHT or family history of the disease. Researchers will analyze blood samples to measure hypoxic induced factors and compare these levels between groups. The study is observational, meaning no treatment is given, and it aims to understand disease mechanisms over time. Participants will undergo blood collection at the start and will be monitored for 12 months. Researchers will assess differences in hypoxic induced factors and how these levels relate to the severity of HHT symptoms. The study includes questionnaires and evaluations to track disease features and will follow participants over a year to observe any changes or patterns linked to these factors.

Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia