Progressive dysphagia caused by Erdheim-Chester disease

Abstract

A 54-year-old woman presented with a 6-week history of progressive dysphagia for solids with insiduous onset and without associated odynophagia. Her medical history included recurrent thromboflebitis with positive lupus anticoagulant, treated with warfarin, and Erdheim–Chester disease (ECD) diagnosed in 2001 based on pulmonary lesions and histologically proven CD68 positive, CD1a and S-100 protein negative histiocytes on biopsy. She was started at that time on multiple courses of oral corticosteroids next to vinblastine in 2003 for refractory pulmonary disease. Yet, she faced recurrent symptomatic bouts with weight loss, fatigue, gingivitis and increased inflammatory parameters. By the end of 2005, 1 year after corticoid withdrawal, she developed increased disease activity with anemia, maximal sedimentation and progressive edema due to nephrotic-range proteinuria and retroperitoneal fibrosis with bilateral hydro-ureteronephrosis on computed tomography (CT) scan. Palpable inguinal glands were biopsied whereby generalized ECD was confirmed histologically. At that time, oral corticosteroids (methylprednisolone 0.5 mg/kg) were restarted with good clinical and serological response. After an episode of systemic corticoid-resistant relapse, cyclosporine was added as corticosteroid sparing agent, generating a clinical and serological remission over the course of 1 year with simultaneous disappearance of hydronephrosis and overt proteinuria. The further course was uneventful under low maintenance doses of …