Latest for Hereditary Hemorrhagic Telangiectasia
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- Trial sites2 new sites opened for Harmony-HHT: ATV-1601 in Participants With Hereditary Hemorrhagic… (Phase 1/2, Atavistik Bio)ClinicalTrials.gov
More about Hereditary Hemorrhagic Telangiectasia
Hereditary Hemorrhagic Telangiectasia results from mutations in genes regulating blood vessel integrity, most commonly endoglin (ENG gene, HHT1) or activin receptor-like kinase 1 (ALK1, HHT2 gene), and less commonly other genes.
Keep reading about Hereditary Hemorrhagic Telangiectasia
These mutations impair transforming growth factor-beta (TGF-β) signaling, crucial for proper blood vessel development and maintenance. The hallmark features include telangiectasias (small dilated blood vessels in skin and mucous membranes) and arteriovenous malformations (direct connections between arteries and veins lacking intervening capillaries). Recurrent spontaneous nosebleeds occur in about 90% of people with HHT, usually starting in early adolescence, and can be severe and frequent, leading to iron-deficiency anemia. Telangiectasias on lips, oral mucosa, and fingers are common diagnostic findings.
According to NORD, gastrointestinal bleeding from intestinal telangiectasias affects about 25-30% of people with HHT and usually begins around age 40 or later. Pulmonary arteriovenous malformations are found in about 50%, are often silent and can cause paradoxical embolism (blood clots crossing to arterial circulation) and stroke. Liver vascular malformations are seen in up to 75%; most cause no symptoms, though NORD says 10-20% may develop liver or heart failure over time. Brain malformations occur in about 10% and carry a risk of bleeding stroke.
What are the symptoms of Hereditary Hemorrhagic Telangiectasia?
These are common symptoms of Hereditary Hemorrhagic Telangiectasia, and how strong they are varies from person to person.
- Frequent and recurrent nosebleeds (epistaxis)
- Mucocutaneous telangiectasias (small red spots on lips, fingers, mucous membranes)
- Gastrointestinal bleeding with anemia and bloody stools
- Shortness of breath from pulmonary arteriovenous malformations
- Headaches or neurologic symptoms from cerebral malformations
- Hepatic complications from hepatic arteriovenous malformations
Who gets Hereditary Hemorrhagic Telangiectasia?
Hereditary Hemorrhagic Telangiectasia can manifest at any age from childhood onward, with most cases recognized in childhood to early adulthood. It affects males and females equally. The disease occurs across all racial and ethnic groups.
It follows an autosomal dominant inheritance pattern, so each child of an affected parent has a 50% chance of inheriting it. Most people with HHT have an affected parent, and NORD describes new (de novo) cases as rare. Penetrance is nearly complete, though severity varies considerably even within families.
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Which new Hereditary Hemorrhagic Telangiectasia medicines are in trials?
Investigational medicines Trial Friend tracks for Hereditary Hemorrhagic Telangiectasia, with trial results, safety findings and where each one stands.
Side effects people have reported to the FDA
Side effects people have reported to the FDA
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Diagnosis and genetic testing
Genetic testing for Hereditary Hemorrhagic Telangiectasia
Genetic testing can confirm a diagnosis, guide treatment decisions, and identify family members who may be at risk.
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Trusted Hereditary Hemorrhagic Telangiectasia resources
Reputable organizations and medical references for learning more about Hereditary Hemorrhagic Telangiectasia, including disease registries, foundation resources, and clinical guidelines.