Overview
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that causes abnormal connections between arteries and veins, known as arteriovenous malformations (AVMs), to develop. These AVMs can enlarge over time and may lead to bleeding or rupture, causing serious complications. HHT can affect various parts of the body, including the nose, lungs, brain, and liver. The most common symptom of HHT is spontaneous and unprovoked nosebleeds, which can occur daily and lead to iron deficiency anemia if persistent. HHT is inherited from parents, and if one parent has the condition, their children have a 50% chance of inheriting it as well.
Understanding the disease
Symptoms
The symptoms of HHT (hereditary hemorrhagic telangiectasia) include:
- Nosebleeds, sometimes on a daily basis and often starting in childhood
- Lacy red vessels or tiny red spots, particularly on the lips, face, fingertips, tongue, and inside surfaces of the mouth
- Iron deficiency anemia
- Shortness of breath
- Headaches
- Seizures HHT is a genetic disorder passed down from parents, and if one parent has the condition, there is a 50% chance of inheriting it. If you have HHT, each of your children has a 50% chance of inheriting it from you.
Development
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that causes abnormal connections, called arteriovenous malformations (AVMs), to develop between arteries and veins. It is inherited from the parents and can affect various locations such as the nose, lungs, brain, and liver. HHT can cause spontaneous and unprovoked nosebleeds, sometimes on a daily basis, as well as persistent bleeding from the nose and the intestinal tract, which can result in severe iron deficiency anemia and poor quality of life. The exact cause of HHT is unknown, but it is believed to be related to genetic factors.
Assessment and Diagnosis
Triage
You should see a doctor if HHT (hereditary hemorrhagic telangiectasia) is suspected, especially if you or your child have any of the following symptoms:
- Nosebleeds, sometimes on a daily basis and often starting in childhood
- Lacy red vessels or tiny red spots, particularly on the lips, face, fingertips, tongue, and inside surfaces of the mouth
- Iron deficiency anemia
- Shortness of breath
- Headaches
- Seizures If HHT is confirmed, it's important to have genetic counseling and consider testing for potential complications. Early diagnosis and management can help reduce the risk of severe complications.
Diagnosis
To diagnose hereditary hemorrhagic telangiectasia (HHT), your doctor may perform a physical examination, review your family history, and recommend genetic testing. Imaging tests such as ultrasound, MRI, bubble study, and CT scan may also be used to identify abnormal blood vessel connections called arteriovenous malformations (AVMs) in affected organs like the lungs, brain, and liver.
Management and Treatment
Complications
HHT, or hereditary hemorrhagic telangiectasia, can lead to various complications, including:
- Arteriovenous malformations (AVMs): These abnormal connections between arteries and veins can cause bleeding or rupture, leading to catastrophic complications.
- Iron deficiency anemia: Persistent bleeding from the nose and intestinal tract can result in severe iron deficiency anemia.
- Quality of life issues: HHT can significantly impact daily life, causing poor quality of life due to the severity of symptoms and complications.
Prevention
regarding the prevention of HHT (Hereditary Hemorrhagic Telangiectasia). HHT is an inherited disorder, and currently, there is no known prevention for the condition. Identifying the condition early and managing its symptoms can help guide treatment and prevent complications. Genetic testing may be recommended for individuals with a family history of the disorder, but not everyone with HHT has a currently detectable mutation.