Management Interventions for Hereditary Hemorrhagic Telangiectasia with Complications of Pulmonary Arteriovenous Malformations and Brain Arteriovenous Malformations: Case Report

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by the presence of vascular abnormalities that impact many organ systems. We present a case of a 6-year-old child diagnosed with HHT, who has experienced repeated epistaxis and had a family history of the condition. The patient complained of hypoxemia and seizures, Chest CT and cranial MRI confirmed the presence of both pulmonary and cerebral arteriovenous fistulas. A genetic test indicated an ENG gene mutation, which led to the diagnosis of HHT type I. Both the pulmonary and intracranial arteriovenous fistulas were embolized through intervention. The pulmonary arteriovenous fistula was treated by embolizing it with a spring coil, which effectively blocked the venous sac and the feeding arteries. As a result of the embolization, the child's hypoxemia totally resolved and returned to normal. The intracranial arteriovenous fistula was treated by embolization using a double microcatheter technique with spring coil along with Onyx. There were no complications such as cerebral hemorrhage or cerebral infarction following the embolization procedure, and there was no recurrence of seizures. Our case demonstrates that interventional embolization is an effective treatment for pulmonary and cerebral vascular abnormalities in symptomatic HHT.