Hereditary Hemorrhagic Telangiectasia, also known as HHT, is a genetic disorder that causes malformed blood vessels and the development of telangiectases and AVMs. It can cause an array of symptoms such as nosebleeds, trouble breathing, and bleeding from the gut as well as many more issues.
What is HHT?
HHT is a condition that affects the blood vessels in the body. People with HHT have abnormal blood vessels that can bleed easily, leading to nosebleeds or much more serious complications such as stroke. HHT is inherited, which means it can be passed down from parents to their children.
What are the symptoms of HHT in children?
The symptoms of HHT can vary from person to person, but some common symptoms in children include:
Nosebleeds: Children with HHT may have frequent, spontaneous nosebleeds that can be difficult to stop.
Breathing problems: Some children with HHT may develop pulmonary AVMs which can lead to trouble with breathing and reduced oxygen saturation, especially when they exercise or sleep.
Stomach problems: Children with HHT may also have bleeding from the gut, which can cause abdominal pain and anemia.
Skin problems: Children with HHT may also have small, red marks on their skin called telangiectases, which can bleed easily.
How is HHT diagnosed in children?
If your child has symptoms of HHT, your doctor may perform tests to diagnose the condition. These tests may include:
Physical exam: Your doctor will check for symptoms like nosebleeds, telangiectases, migraines and breathing problems. They will also look for a family history of HHT or AVMs.
Imaging tests: Your doctor may also use tests like MRI or CT scans to look at your child's brain and lungs to screen for AVMs.
Genetic testing: Your doctor may also order a genetic test to see if your child has a mutation that causes HHT.
How is HHT treated in children?
The treatment for HHT will depend on your child's specific symptoms. Some common treatments include:
Nosebleeds: Your doctor may recommend using a special spray or gel to help reduce nosebleeds. Sometimes surgery or blood transfusions may be needed due to severity.
Breathing problems: Children with HHT who have trouble breathing may need surgery.
Stomach problems: Children with HHT who have bleeding from the gut may need surgery to stop the bleeds, and may need to take iron supplements to help prevent anemia.
Skin problems: Children with HHT who have Telangiectasia may need to avoid direct sun exposure. Wearing daily sunscreen and a hat may be recommended.
AVMs - People with HHT can develop multiple AVMs throughout the body. Treatment of AVMs depends on the location and size of the AVM.
If your child has been diagnosed with HHT, it's important to work with your doctor to come up with a treatment plan that's right for your child.