HHT, or Hemorrhagic Telangiectasia, is a medical condition that involves abnormal blood vessels in various parts of the body, leading to bleeding or problems with blood flow.
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a genetic disorder that affects blood vessels, leading to an increased risk of bleeding and serious complications. This condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene from an affected parent can cause the disorder in their offspring, with a 50% chance that their child will inherit the condition [1].
## Common Complications of HHT
Recurrent nosebleeds (epistaxis) are a hallmark of HHT, affecting the majority of patients [1][3][5]. Gastrointestinal bleeding, chronic bleeding from abnormal vessels in the gastrointestinal tract, can lead to anemia, black or bloody stools, fatigue, and lightheadedness in about 25% of diagnosed patients [3][5][1].
Arteriovenous malformations (AVMs) can also cause significant problems. Lung AVMs, present in about 30% of HHT patients, can rupture and cause life-threatening complications such as pulmonary hemorrhage, embolic stroke, or brain abscess [5][1][3]. Brain AVMs, occurring in about 15% of patients, carry a risk of rupture that may result in stroke or seizures [5][1]. Liver AVMs, common in adults with HHT, can lead to high-output heart failure, portal hypertension, or biliary disease [5][1].
Women with HHT may experience significant menstrual blood loss, contributing to anemia [3]. Other organ involvement, such as spinal AVMs and rare vascular malformations in other organs, are less common but possible [5]. Secondary complications, including iron deficiency anemia, fatigue, and decreased quality of life, can result from chronic or recurrent bleeding [1][5][3].
## Managing HHT
Identifying and avoiding triggers that may lead to bleeding episodes is essential. Maintaining proper hydration is vital for overall health, especially for those with HHT [6]. Supportive footwear with good arch support and non-slip soles can enhance stability and prevent falls [7].
Stress management techniques like meditation, yoga, and deep breathing exercises can help those with HHT manage stress levels [8]. Regular medical check-ups are crucial for monitoring HHT and detecting complications early [9].
Common symptoms of HHT include nosebleeds, telangiectasias, gastrointestinal bleeding, shortness of breath, and fatigue [3]. Recognizing the signs of HHT is important for early diagnosis and improved outcomes.
Endovascular embolization is a minimally invasive procedure to block abnormal blood vessels, particularly in the case of pulmonary AVMs (PAVMs) [10]. In severe cases of liver involvement, liver transplantation may be necessary [11].
## Resources and Support
For those seeking more information about HHT and its management, resources like AI platforms can provide evidence-based answers and support [12]. HHT support and resources include organizations, online support groups, educational resources, counseling services, and family and friends support [13].
A balanced diet plays a significant role in managing HHT, focusing on iron-rich foods, vitamin C, and limiting alcohol [14]. The primary genes associated with HHT are ENG and ACVRL1 [15]. Genetic testing can help identify mutations associated with HHT, allowing for early diagnosis and management [15].
[1] National Heart, Lung, and Blood Institute. (2021). Hereditary Hemorrhagic Telangiectasia (HHT). Retrieved from
Science plays a vital role in understanding and managing medical-conditions like Hereditary Hemorrhagic Telangiectasia (HHT), especially in addressing its potential impact on health-and-wellness aspects, such as cardiovascular-health. For instance, brain AVMs can carry a risk of rupture that may result in stroke or seizures, affecting cardiovascular health [5]. Additionally, liver AVMs can lead to high-output heart failure, another cardiovascular complication often associated with HHT patients [5].
