Hereditary Hemorrhagic Telangiectasia With Pulmonary Arteriovenous Fistulas
A 65-year-old woman presented with exertional dyspnea and general fatigue that began 1 week ago. She had a family history of hereditary hemorrhagic telangiectasia manifesting as telangiectasia of gastrointestinal (GI) tract and nasal mucosa and of pulmonary arteriovenous fistulas (PAVFs). Her first PAVF was diagnosed in 1999 but was untreated at that time. Her medical history was significant for multiple GI bleeds, mild to moderate nosebleeds, and a minor cerebral stroke probably due to embolism from PAVF. GI endoscopy revealed multiple telangiectases of the GI mucosa (Figure 1A). In addition, multiple telangiectases of the nasal mucosa were found. At admission, physical examination revealed scattered telangiectases on the tongue (Figure 1B). Her arterial oxygen saturation was 88% and her arterial partial pressure of oxygen was 56.3 mm Hg in room air. The chest radiograph showed a lobulated mass in the left lower lobe of the lung. Computed tomography revealed a lobulated opacity with a large feeding artery and large draining veins (Figure 1C). The calculated shunt ratio was 32.7%. Pulmonary angiography showed a large PAVF in the left ninth segment and a small PAVF near the main lesion (Figure 2A and 2B). A percutaneous transcatheter coil embolization was performed (Figure 2C). After the procedure, her arterial oxygen saturation immediately improved to 98% and her arterial partial pressure of oxygen increased to 87.8 mm Hg in room air. The shunt ratio decreased to 9.8% and her symptoms immediately disappeared. This report demonstrates the successful use of percutaneous transcatheter coil embolization to treat a large PAVF in a patient with hereditary hemorrhagic telangiectasia.