Overview
Hereditary haemorrhagic telangiectasia (HHT) is a rare genetic disorder that affects blood vessels, causing abnormal connections between arteries and veins, leading to frequent bleeding.
Symptoms
Frequent nosebleeds Red or purple spots on the skin and mucous membranes Bleeding in the gastrointestinal tract Shortness of breath or fatigue if anemia develops
Causes
Inherited genetic mutations affecting blood vessel formation
Diagnosis
Family and medical history assessment Physical examination Imaging tests such as CT, MRI, or ultrasound to detect abnormal blood vessels Genetic testing in some cases
Treatment
Management of nosebleeds and other bleeding episodes Iron supplements or blood transfusions for anemia Surgical or interventional procedures to correct abnormal blood vessels
Complications
Anemia due to chronic blood loss Stroke or brain abscess in cases with abnormal brain vessels Heart complications from arteriovenous malformations
Prevention
No way to prevent inheritance Early diagnosis and monitoring can reduce complications