Living with Hereditary hemorrhagic telangiectasia
An inherited condition with abnormal blood vessels that causes frequent nosebleeds and can affect the lungs, brain, and liver.
Understanding Hereditary hemorrhagic telangiectasia
These connections are called arteriovenous malformations. Near the skin they show up as small red marks called telangiectases. The strained vessels can bleed. Nosebleeds are very common. Bleeding can also happen in the brain, liver, lungs, or other organs. There are several forms. People with type 1 tend to have symptoms earlier and more lung and brain malformations than people with type 2.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Frequent nosebleeds
- Small red spots on lips and linings (telangiectases)
- Abnormal blood vessel connections (AVMs)
- Malformations in the lungs or liver
- Anemia (low red blood cells)
- Migraine
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
Specialists who may be involved include autoimmune and inflammatory disease specialists, brain and nervous system specialists, digestive system specialists and eye disease specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Alliance to Cure Cavernous Malformation and Cure HHT may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: Alliance to Cure Cavernous Malformation, Cure HHT
- 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 Alliance to Cure Cavernous Malformation and other patient organizations
- 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
GARD says changes in genes (also called variants) cause HHT, and the forms are mainly distinguished by the gene involved. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: hht; hht - hereditary hemorrhagic telangiectasia; orw disease; osler hemorrhagic telangiectasia syndrome; osler weber rendu syndrome; osler-rendu-weber disease
Patient organizations
- Alliance to Cure Cavernous MalformationHereditary hemorrhagic telangiectasia · United States
- Cure HHTHereditary hemorrhagic telangiectasia · United States
- The Aneurysm and AVM FoundationHereditary hemorrhagic telangiectasia · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary hemorrhagic telangiectasia.
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