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2020년 제 71차 대한내과학회 추계학술대회
￭S-691 ￭ A case of Erdheim Chester Disease presented as a mimic of IgG4-related disease
원주 연세 세브란스 기독병원 내과학교실 장민석, 남승완, 공지현
A 46-year-old female was hospitalized with atypical chest discomfort. She also complained of headaches, blurry vision, and juxta-articular pain in both lower extremities. She has a history of central diabetes insipidus (DI) since 2017 and IgG4 related disease (IgG4-RD) since 2019. Her initial blood pressure was 139/91, temperature was 36.0℃, CRP was 5.65mg/dL, and ESR was 59 mm/h.
ANA and other immunologic markers were within a normal range, but IgG4 was 2900 mg/L (reference range: <2,010 mg/L).
Cardiomegaly was noted in the chest x-ray. Computer tomography showed pericardial thickening and effusion. In addition, retroperitoneal fibrosis was compressing inferior vena cava, abdominal aorta, and ureter which caused hydronephrosis. Bone scan showed increased uptake in the bilateral zygomaticomaxillary bones, bones of lower extremities, and some part of upper extremities as shown in figure 1. Pericardial tissue was acquired during pericardial window surgery and it revealed diffuse fibrotic changes. Bone biopsy was performed at femur which was non-diagnostic. However, bone marrow biopsy showed increased number of histiocytes with hemophagocytosis which shows in figure 2. Central DI, pericarditis, long bone diseases, infiltration of perinephric tissues (hairy kidney), sinusitis, and increased metabolic activity in the retro-orbital spaces and long bones, all of these can be explained by Erdheim Chester Disease (ECD) not IGG4-RD. Therefore, we started to treat with high dose steroids and interferon–α2. ECD is an extremely rare disease, which can be confused with many autoimmune diseases because of its multi-systemic involvements and variable clinical courses. Since ECD can increase IgG4 and affect para-aortic space, the diagnosis could be confused with IgG4-RD like our case patient.
Special attention is needed especially when symptoms and studies do not exactly match the previous diagnosis.
