ERDHEIM-CHESTER DISEASE: NEW ADVANCES

Erdheim-Chester disease (ECD) is a rare histiocytosis with a typical clinical phenotype of cortical sclerosis of long bones, detected using imaging techniques, and tissue infiltration by immune cells, detected by lesion biopsy. It can be histochemically distinguished from other histiocytoses, although it is often misdiagnosed. The disorder generally effects middle-aged people, with a predominance for males, but on rare occasions it has been reported in children or young adults. Although the major complaint with ECD is long bone pain, it is also associated with extraskeletal manifestations in many other tissues, and it is these manifestations that give rise to a poor prognosis for those with ECD, patients often dying soon after diagnosis, usually due to cardiac pulmonary or renal failure. The etiology of the disease is unknown and treatment protocols have largely been based on therapies used to treat other histiocytoses, but recent advances point to the involvement of cytokines involved in inflammation. Previous therapies for ECD include radio- and chemotherapy, Immunosuppressant drugs and transplantation, all of which have shown poor efficacy. More recently, interferon alfa and interleukin receptor agonists have been used with greater promise, as well as a tyrosine kinase inhibitor, imatinib, which has proven efficacy in treating ECD.