Reviewed by Brian R. Robinson, MD
Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome, also known as Osler Disease, is an inherited disorder of the blood vessels that can result in hemorrhaging (excessive bleeding), and in rare cases may lead to life-threatening bleeding in the brain.
HHT is the expression of an autosomal dominant trait that results from a mutation of the endoglin or ALK1 genes.
The earliest symptom, frequent incidence of epistaxis, can appear in children, but may be attributed to another cause. The most easily identifiable characteristic, the telangiectases, may not appear until puberty. Telangiectacies, when they develop, can be seen on the lips, tongue, and inner surface of the nose. Vascular abnormalities may also be present in the brain, throat, gastrointestinal tract, liver, bladder, and vagina.
Bleeding in the brain (known as a brain hemorrhage or “brain bleed”) may cause varied neurological symptoms such as brain damage resulting in seizures, motor skill, speech, or other developmental impairment and, if severe, may be fatal.