Endovascular coil embolization of pulmonary AV malformations in a patient with hereditary hemorrhagic telangiectasia

Abstract

An asymptomatic Caucasian woman was diagnosed at 22 years of age with bilateral lung ‘masses’ during work-up for knee surgery. CT angiography (CTA) confirmed AV malformations (AVM), for which she underwent left lower lobectomy. Afterwards, she had recurrent epistaxis and bleeding from her tongue; she noticed several pinhead-sized bright-red spots on her tongue, lips and finger nails (Panels A and B). She was subsequently diagnosed with an asymptomatic cerebral AVM by CT angiogram. Her mother and two sisters also had systemic AVMs. At age 38, the patient was diagnosed with a second AVM in the right lung. Owing to the previous lobectomy, endovascular treatment was elected. The right pulmonary trunk was selectively engaged with a 7-French guide catheter and the lower lobar AVM was successfully embolized with MRI compatible coils (Panel C). Hereditary hemorrhagic telangiectasia (HHT) is a vascular anomaly transmitted by an autosomal dominant trait of varying penetrance and has an incidence of 1 in 5000–8000.1 First described by Osler, Weber and Hanes in early 19th century, HHT usually presents in childhood with anemia, epistaxis from mucosal AVMs, and mucocutaneous telangiectases. 2 Arteriovenous malformations in HHT can also involve the lungs (20–30%), liver (30%), and brain (10–20%). 3,4 There is an increased incidence of neurological symptoms among patients with HHT. 3 Owing to late penetrance, there is no age cut-off at which offspring of patients with HHT may present, unless tested negative for endoglin or ALK-1 gene mutations. Management is usually by a multidisciplinary approach. Regardless of symptomatology, patients with mucocutaneous telangiectases should be screened for pulmonary and cerebral AVMs to avert risks of visceral bleeding, paradoxical embolism and stroke. Family genetic counseling and screening are essential. Because of their multilocation and recurrent nature, all visceral AVMs are preferably treated endovascularly.