[Cardiovascular involvement in Erdheim-Chester syndrome: clinical and therapeutic implications]

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans' cell histiocytosis of unknown etiology and its incidence is constantly increasing. ECD is characterized by a xantomatous or xanthogranulomatous infiltration of various tissues by foamy histiocytes surrounded by fibrosis. ECD is characterized by multi-organ involvement and is generally associated with a poor prognosis with a median survival of 32 months after diagnosis. Cardiovascular involvement concerns mainly the thoraco-abdominal aorta and pericardium. Less frequently, infiltration affects the myocardial tissue, especially the right atrium, and the valvular endocardium. Recently, the involvement of the vena cava has also been described. The diagnosis of ECD is made by the identification of foamy histiocytes CD68 positive and CD1a/S100 negative embedded in a polymorphic inflammatory tissue on biopsy. Despite the adoption of several therapeutic strategies until now prognosis has remained poor. Interferon-α can be considered the first line therapy, but its effects on central nervous system and cardiovascular localization have been shown to be often poor. In this context a combined treatment with the anti-TNFα monoclonal antibody infliximab and methotrexate seems to be effective and well tolerated.