A Fatal Case of Erdheim-Chester Disease with Hepatic Involvement

Abstract

Erdheim-Chester disease (ECD) is a rare form of systemic histiocytosis, typically presenting with striking osseous involvement characterized by bilateral osteosclerosis and involvement of organs such as the lung, pituitary gland, heart, and brain. Liver involvement with ECD is extremely uncommon. We report a 56-year-old woman presenting with newly diagnosed cirrhosis and signs concerning for intra-abdominal malignancy, including omental caking and peritoneal thickening. Liver biopsy demonstrated xanthogranulomatous infiltration from ECD. The patient showed initial improvement with interferon therapy, but she developed severe depression, which led to the discontinuation of the treatment. Shortly afterward, she died from progressive liver dysfunction resulting in hepatorenal syndrome.

Figure 1

Abdominal computed tomography showing peritoneal carcinomatosis, including omental caking (arrows), scattered peritoneal nodularity, and ascites.

Figure 2

Erdheim-Chester disease histology. (A) Hematoxylin and eosin (H&E) stain of the liver biopsy showing hepatic parenchyma infiltrated by pale histiocytes (100x). (B) High magnification of H&E stain showing foamy histiocytes (arrow) (400x). (C) Trichrome stain showing cirrhosis characterized by extensive bridging fibrosis and nodular formation (100x). (D) H&E section of peritoneal biopsy showing similar foamy histiocytes (black arrow) and a Touton giant cell (blue arrow) (400x).

Figure 3

Immunohistochemical stains on liver biopsy. (A) CD163 showing numerous positive histiocytes filling the liver sinusoids (100x). (B) CD68 showing positivity in the histiocytes (100x). (C) Factor XIIIa showing weak to strong positivity in the histiocytes (100x). (D) CD1a is negative in the histiocytes (100x).