Alternate Names: Hereditary hemorrhagic telangiectasia

Causes and Risks: Hereditary hemorrhagic telangiectasia, also known as HHT or Osler-Weber-Rendu syndrome, is inherited as an autosomal dominant trait. Affected children develop red or reddish purple telangiectasia (spider-like, macular or papular spots) on the lips and tongue and the nasal mucosa. Other areas such as the face and ears may be involved and internal vascular abnormalities can occur in the brain, throat and larynx, gastrointestinal tract, liver, bladder, and vagina.

Frequent nosebleeds in children may be an early sign but the easily visible characteristic vascular lesions (telangiectasia) on the tongue and lips may not appear until puberty. The telangiectasia bleed easily. Bleeding into the head (brain hemorrhage) may cause varied neurological symptoms such as seizures and if severe may be fatal.

Prevention: Genetic counseling is recommended for prospective parents with a family history of hereditary hemorrhagic telangiectasia.

Symptoms:

• frequent nosebleeds in a child
• the appearance of vascular lesions during late childhood or early adolescence on the:
  • tongue
  • lips
  • whites of the eyes
  • ears
  • finger tips and nail beds
• cutaneous telangiectasia
• port wine stain (occasionally present)

Signs and Tests: The lesions are usually visible in a routine physical examination. There is often a family history of hereditary hemorrhagic telangiectasia.

Other signs include:

• hepatomegaly
• GI bleeding

Treatment: Bleeding in vital areas must be corrected surgically. Frequent or heavy nosebleeds (epistaxis) may be treated with electrocautery or laser.

Prognosis: Barring a fatal intracranial hemorrhage, this syndrome is compatible with a normal lifespan.

Complications:

• internal hemorrhaging

Call your health care provider if your child has frequent nose bleeds or other signs of this disease.