Vnitr Lek 2026, 72(5):E1-E10 | DOI: 10.36290/vnl.2026.058

Erdheim-Chester disease diagnosed and treated at the Hematology and Oncology Clinic of the Brno University Hospital in the last 26 years. Description of 6 cases and an overview of the symptoms and treatment of this disease

Zdeněk Adam¹, Zdeněk Řehák², Karel Starý³, Richard Chaloupka⁴, Aleš Čermák⁵, Sandra Soboličová², Ivanna Boichuk¹, Martin Štork¹, Viera Sandecká¹, Andrea Křivanová¹, Marta Krejčí¹, Luděk Pour¹

¹ Interní hematologická a onkologická klinika LF MU a FN Brno

² Oddělení nukleární medicíny, Masarykův onkologický ústav, Brno

³ Interní gastroenterologická klinika LF MU a FN Brno

⁴ Ortopedická klinika LF MU a FN Brno

⁵ Urologická klinika LF MU a FN Brno

Erdheim-Chester disease (ECD) is a malignant histiocytic disease that is usually accompanied by a systemic inflammatory reaction (fever of uknown origin). Osteosclerotic bone changes are characteristic. A typical feature is increased accumulation of osteotropic radiopharmaceuticals around the knee joints (hot knees) and the formation of retroperitoneal infiltrates. ECD can affect virtually any organ. Its incidence in the adult population has been estimated in Europe and the USA at 3 cases/10 million adults. The number of diagnosed cases has been increasing in recent years due to better awareness among physicians. At the Hematology Clinic in Brno, we have diagnosed and treated six cases of ECD over the past 26 years. The diagnosis was made due to: pain in the lower extremities with atypical skeletal structure (two cases), diabetes insipidus (two cases), B-symptoms, fever and fatigue (two cases), retroperitoneal fibrosis (two cases), typical picture for ECD on skeletal scintigraphy performed for another indication (one case), bilateral exophthalmos (one case). We treated all patients with cladribine often supplemented with cyclophosphamide infusions. We can only evaluate the treatment in 4 patients, two of whom are in complete and two in partial remission, the duration of follow-up of these patients is 208, 196, 83 and 30 months. The fifth patient is alive, but is not being followed up by us, and the sixth patient is undergoing treatment at the time of evaluation and is after the 4th cycle. The aim of the text is to draw attention to the symptoms that may indicate ECD and its treatment. The diagnosis can be made by orthopedists by targeted bone biopsy, urologists by histological sampling from the retroperitoneum, endocrinologists in search of the cause of diabetes insipidus. FDG-PET/CT examination provides information about the extent of the disease and it is advisable to supplement the imaging with radiopharmaceuticals that detect new bone formation (skeletal scintigraphy or NaF-PET/CT) and better illustrate the osteosclerotic foci typical of the disease.

Keywords: Erdheim-Chester disease, diabetes insipidus, retroperitoneal fibrosis, osteosclerosis.

Accepted: August 20, 2026; Published: August 27, 2026  Show citation