IMPROVEMENT IN PULMONARY HYPERTENSION SECONDARY TO HEREDITARY HEMORRHAGIC TELANGIECTASIA FOLLOWING BEVACIZUMAB THERAPY

Abstract

SESSION TITLE: Tuesday Medical Student/Resident Case Report Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: 10/22/2019 01:00 PM - 02:00 PM INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by multiple vascular malformations, including telangiectasias and arteriovenous malformations (AVM) in the brain, lung and liver. When hepatic AVMs occur, high output cardiac failure can result, ultimately leading to acute cor pulmonale. We discuss a patient case with high output cardiac failure, due to hepatic AVMs. CASE PRESENTATION: This is a 57 year old female with confirmed HHT (ACVRL1 gene mutation) presented to pulmonary clinic for dyspnea. She was recently hospitalized due to dyspnea, lower extremity edema and recurrent epistaxis. Chest radiography with enlarged cardiac silhouette with pulmonary vascular congestion, chest angiography and V/Q were negative for acute pulmonary embolism. Echocardiography showed ejection fraction of 60-65% with severe tricuspid regurgitation, and severe pulmonary arterial hypertension with estimated right ventricular systolic pressures of 82mmHg. Outpatient pulmonary function test with FEV1 of 1.83 which was 64% of predicted, with FEV1/FVC 74% of predicted along with reduced six minute walk test of 356 meters, with elevated right heart pressures (Table 1). She was started on intravenous bevacizumab every three months for maintenance therapy. Repeat right heart catheterization after 6 months with significant improvement (Table 2). Repeat six minute walk test was 494 meters. Upon follow up, she reported significant improvement in epistaxis, dyspnea and lower extremity swelling. DISCUSSION: Due to this patient’s extensive hepatic AVM, she developed high output cardiac failure and severe pulmonary hypertension. In patients with HHT, hepatic AVMs are considered the most prevalent visceral AVM, although more than 90% can be clinically silent. Patients with hepatic AVMs can develop pulmonary hypertension along with high output cardiac failure. Interestingly, these patients are usually carriers of the ACVRL mutations [1], such as in our patient. Given the rarity of this disease, only few studies suggest treatments for HHT, including VEGF inhibitor, bevacizumab. In 2009, a French open label phase 2 single arm trial was conducted in 25 patients with severe HHT with symptomatic liver involvement. A significant decrease of high cardiac index had been demonstrated in 17 of 24 patients. Initially, mean CI was 5.01 L/min/m2, with a significant decrease after three months of treatment, with a mean CI at 4.2 L/min/m2 [2]. Due to significant improvement in our patient's respiratory symptoms and pulmonary hypertension, as noted on repeat right heart catheterization, intravenous bevacizumab should be considered as treatment for patients with HHT. CONCLUSIONS: In patients with hereditary hemorrhagic telangiectasias, it is imperative to consider intravenous bevacizumab, especially in patients with pulmonary hypertension. Reference #1: Sopeña, B., Pérez-Rodríguez, M. T., Portela, D., Rivera, A., Freire, M., & Martínez-Vázquez, C. (2013). High prevalence of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. European journal of internal medicine, 24(3), e30-e34. Reference #2: Dupuis-Girod S, Ginon I, Saurin J-C, Marion D, Guillot E, Decullier E, et al. Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output. JAMA. 2012; 307: 948–955. https://doi.org/10.1001/jama.2012.250 PMID: 22396517 DISCLOSURES: No relevant relationships by Bindu Akkanti, source=Web Response No relevant relationships by NEAL GEORGE, source=Web Response no disclosure on file for Juneja Harinder; no disclosure on file for Victor Machicao; No relevant relationships by Jennifer Sunny, source=Web Response