Diagnostic Criteria and Treatment of Hereditary Hemorrhagic Telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia (HHT; Osler-Weber-Rendu syndrome; Morbus Osler) represents a syndrome affecting capillary vessels, leading to arteriovenous shunting. With an average worldwide prevalence of 1:5.000-8.000HHT is considered an orphan disease. Arteriovenous shunts involve predominantly the nasal mucosa, the intestine, lung, liver and central nervous system. Epistaxis is the primary and most bothersome complaint of patients with HHT. A multistage therapeutic concept includes nasal ointment, laser therapy under local anesthesia and surgery under general anesthesia, as well as drug therapies. In addition, screening to determine affection of internal organs is carried out. Lesions that require therapy should be treated in an interdisciplinary setting. Treatment of lesions of the skin, oral and gastrointestinal mucosa and liver is carried out in regard to patients' symptoms, whereas vascular malformations of the lung and brain might need treatment without being symptomatic, due to possible life-threatening complications.