Erdheim–Chester disease
| Erdheim–Chester disease | |
|---|---|
| Other names | Erdheim–Chester syndrome or Polyostotic sclerosing histiocytosis |
| Histopathology slide of Erdheim-Chester disease | |
| Specialty | Hematology-Oncology |
| Symptoms | Long bone pain, muscle pain, joint pain, diabetes insipidus, exophthalmos, abdominal pain |
| Usual onset | Adults aged 40-60 |
| Differential diagnosis | Langerhans' cell histiocytosis, Rosai-Dorfman disease, Takayasu arteritis, granulomatosis with polyangiitis, chronic recurrent multifocal osteomyelitis, neurosarcoidosis |
| Prognosis | Asymptomatic to multisystemic, life-threatening forms |
| Frequency | Unknown. Approximately 1500 cases (<20 pediatric) have ever been reported |
Erdheim–Chester disease (ECD) is an extremely rare disease classified as a non-Langerhans-cell histiocytic neoplasm. In 2016, the World Health Organization (WHO) defined ECD as a slow-growing blood cancer that may originate in the bone marrow or precursor cells. Typical onset occurs in middle aged individuals, although pediatric cases have been documented. The exact cause of ECD remains unknown, though it is believed to be linked to an exaggerated TH1 immune response. The disease involves an infiltration of lipid-laden macrophages, multi-nucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones.