Erdheim-Chester disease: Challenges in diagnosing and treating a rare multisystemic disease in Malaysia

Abstract

Erdheim-Chester disease (ECD) or lipoid granulomatosis is a rare non-langerhan cell histiocytosis disease characterised by infiltration of foamy histocytes into the affected organs of different systems. ECD lesions are recognised to cause progressive scarring and fibrosis that pervade multiple organs and systems. Being rare and notoriously insidious, ECD is often diagnosed late. In Malaysia, to date, there is only 1 case report pertaining to this rare disease in which the patient has unfortunately passed away just 4 months after diagnosis. In this case report, we acquired the opportunity to describe the multisystemic involvement of ECD in our patient. Furthermore, over the course of the 27-month endeavour, numerous obstacles have been identified, including our patient's less-than-ideal health-seeking behaviour as well as limitations with regard to imaging, laboratory modalities, and therapeutics. This case will highlight the unique challenges we overcame to solve this clinical conundrum in our publicly funded tertiary hospital in Malaysia.