Lung transplantation for alpha-1-antitrypsin deficiency and Behçet's disease: A case report

Abstract

Introduction: Alpha-1-antitrypsin deficiency (A1AD) is a genetically determined antiproteinase deficiency that predisposes to early-onset emphysema and liver disease. Lung transplantation (LTx) is the final therapeutic option. Behçet's disease (BD) is a rare autoimmune disease characterized by oral and genital ulcers and deep venous thrombosis associated with large-vessel and small-vessel vasculitis and aneurysms. The association of A1AD and BD is unknown. We describe a rare case of concomitant presentation of these pathologies in a patient submitted to LTx.

Case report: In 2012, a 31-year-old female presented with oral and genital ulcers associated with cavernous sinus thrombosis, being diagnosed with BD. In 2018, debuted with progressive respiratory symptoms. A computed tomography (CT) scan revealed extensive pulmonary emphysema associated with decreased pulmonary function. A1AD was identified with a heterozygous "MZ" allelic combination. She was referred to our LTx center in 2021. After additional investigation, she was considered for LTx and underwent standard bilateral LTx in July 2022. In the postoperative period, special attention was given to the risk of vascular complications, and postoperative angiography-CT was performed actively searching for this possible outcome. No major events occurred, and after 1 year, she is fully functional with no signs of BD activity.

Conclusion: To our knowledge, this is the first description of LTx for A1AD in a patient with BD, proving its feasibility in a highly selected patient at an experienced and specialized center. Nonetheless, solid organ transplantation in patients with BD remains a high-risk procedure and should be indicated with caution.