Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu
syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation.
The diagnosis of hereditary hemorrhagic telangiectasia is clinical, based on the Curaçao
criteria. Genetic mutations that have been identified include ENG, ACVRL1/ALK1, and
MADH4/SMAD4, among others. Patients with HHT may have telangiectasias and
arteriovenous malformations in various organs and suffer from many complications including …

Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that
occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect
the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common
presenting problem, occurring in 90 percent of affected patients. Approximately 15 to 30
percent of patients with hereditary hemorrhagic telangiectasia will have an arteriovenous
malformation in the lungs and more than 10 percent will have one in the brain. The …