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

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INTRODUCTIONAlpha-1-Antitrypsin deficiency (A1ATD) is a genetically determined anti-proteinase deficiency which 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, deep venous thrombosis associated with large and small-vessel vasculitis and aneurysms. The association of A1ATD and BD is unknown. We aim to describe a rare case of concomitant presentation of these pathologies in a patient submitted to LTx. CASE REPORTA 31-years-old female presented with oral and genital ulcers associated with cavernous sinus thrombosis in 2012, being diagnosed with BD. In 2018 debuted with progressive respiratory symptoms. CT-scan revealed extensive pulmonary emphysema associated with decreased pulmonary function. A1ATD was identified with a heterozygous “MZ” allelic combination. She was referred to LTx center in 2021. After additional investigation, the patient was considered to LTx. She underwent standard bilateral LTx in July of 2022. During post-operative time, special attention was given to the risk of vascular complications, and pos-operative angio-CT was performed actively searching for this possible outcome. Nevertheless, no major events occurred. After 1 year, she is fully functional with no signs of BD activity. CONCLUSIONTo our knowledge, this is the first description of LTx for A1ATD 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.