Causes and risk factors
Per la malattia di Erdheim-Chester non è stata dimostrata la presenza di una predisposizione genetica o razziale. Ad ammalarsi sono principalmente persone adulte, con un’età media di circa 50 anni, e gli uomini sono leggermente più colpiti delle donne. Raramente sono stati descritti casi in età pediatrica.
È importante sottolineare come, recentemente, anche grazie al contributo del nostro Istituto, è stato dimostrato che nella quasi totalità dei pazienti alcune delle cellule che causano la malattia sono portatrici di una particolare mutazione a livello del gene BRAF.
Which are the symptoms?
It is very difficult to recognize and diagnose Erdheim-Chester disease, therefore it is always recommended to contact a specialized center. Clinical manifestations are very diverse and depend on which organs are infiltrated by pathological histiocytes. However, some clinical pictures are very characteristic and allow one to suspect the presence of the disease: for example, a lesion of the skeleton with pain in the bones; infiltration of the skin that leads to the formation of certain lesions called xanthomas or xanthelasmas; infiltration of the retroorbital space, which can cause forward displacement of the eyeball.
How is it diagnosed?
Radiological techniques such as bone scintigraphy, computed tomography and positron emission tomoscintigraphy can provide additional indicative results and confirm diagnostic suspicions. However, biopsy and histological examination are required for a definitive diagnosis and must be performed by personnel with relevant experience.
How is it treated?
Standard therapy involves the use of a specific anti-inflammatory drug - interferon alpha. However, in recent years, due to the acquisition of more knowledge about the pathogenesis of this disease, a new therapeutic approach has been developed based on the use of the drug vemurafenib, the action of which is based on inhibition of the protein product of the mutated BRAF gene.