Erdheim-Chester Disease: A Rare Disease Causing Diagnostic Challenge in A 35 Year Old Male From Ethiopia

Abstract

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell tumor with histopathology features of foamy histocytes and fibrosis. The disease has varying manifestations from asymptomatic to life-threatening organ involvement including long bones, CNS, lung, heart, and kidneys. On histopathology staining, the cells exhibit CD68 positivity but CD1a and S100 negativity. The prognosis of the patients is poor. ECD poses a diagnostic and therapeutic challenge due to its resemblance to various disorders requiring a multidisciplinary approach. We report a case of a 35-year-old male patient from Ethiopia with literature review, who initially presented with massive chylous ascites and retroperitoneal manifestation but later developed pulmonary and cardiac manifestations. The diagnosis was suggested from an abdominal CT scan with subsequent image-guided biopsy which compartments a diagnosis.

Erdheim-Chester Disease: an elusive diagnoosis in a 50-year old Ethiopian man presenting with diffuse sclerotic bone lesion

“…The exact incidence of ECD is unknown. However, around 1000 cases have been reported in the literature [1][2] and only one case has been reported from Ethiopia [3]. It primarily affects adult males in their fifth to seventh decade of life [4][5].…”