This is a severe disease and relatively common genetic disease. Recent epidemiological surveys suggest that the prevalence of HHT approaches one in 10,000 births. This may be a low estimate as the disorder is often improperly diagnosed or missed altogether.
Diagnosis now depends on clinical sypmotomology and familial history.
However, cerebral and pulmonary arteriovenous malformations also are a significant source of morbidity and mortality. Pulmonary arteriovenous malformations result in direct right to left shunts and can produce profound dyspnea, cyanosis and polycythemia. More often, the earliest symptoms that result from these malformations are brain abscess and stroke secondary to shunting. These symptoms are common in affected children. Consequently, differentiating HHT from other vascular disorders is important for early disease management.