Living with Telangiectasia, hereditary hemorrhagic, type 2
An inherited blood vessel condition that causes nosebleeds and abnormal blood vessel connections in the skin and organs.
Understanding Telangiectasia, hereditary hemorrhagic, type 2
People can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas. On the skin they are called telangiectasias. AVMs can also form in the brain, lungs, liver, or intestines. HHT type 2 is caused by a change in the ACVRL1 gene.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated nosebleeds
- Small red blood vessels on the face, lips, mouth, and palms
- Bleeding in the gut
- Abnormal blood vessels in the brain, lungs, or liver
- Shortness of breath
- Bluish skin color
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Aneurysm and AVM Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ACVRL1 gene cause HHT type 2. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: acvrl1 hereditary hemorrhagic telangiectasia; acvrl1-related hereditary hemorrhagic telangiectasia; hereditary hemorrhagic telangiectasia caused by mutation in acvrl1; hht2; telangiectasia, hereditary hemorrhagic, type ii
Patient organizations
- The Aneurysm and AVM FoundationTelangiectasia, hereditary hemorrhagic, type 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Telangiectasia, hereditary hemorrhagic, type 2.
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