Reviewed by Brian R. Robinson, MDHereditary 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 syndrome is characterized by the presence of lesions called telangiectases (red or purple spider-like spots) on the tongue and lips, frequent nose bleeds (epistaxis), and a family history of the disorder. 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.
Additional symptoms of HHT are GI tract bleeding (identified by blood or discoloration in the stool), coughing up blood, shortness of breath and (if the brain is involved) small strokes or mini-seizures.
HHT can be diagnosed through a variety of means. Endoscopy (the exploration of the body with a small, telescope-like tube) of the throat, bowels, or breathing passages may show the presence of many abnormal masses of blood vessels that bleed easily. Blood tests may show anemia from frequent blood loss. Echocardiogram can show what is known as “high output” heart failure, which results from the heart having to work harder to compensate for blood loss. Abdominal ultrasound or other tests may show an enlarged liver. Finally, genetic testing may be able to identify the mutation responsible for the syndrome.
