| Popis |
Introduction: Erdheim-Chester disease is an uncommon disease with potentionally life-threatening complications (pulmonary fibrosis, heart failure). Belonging to the non-Langerhans cell histiocytosis group, it is characterized by proliferation of foamy histiocytes and their infiltration into various tissues and organs, typically the long bones of the lower extremities. Because of the low prevalence, there is no standard therapy of this disorder. Herein we report on the follow-up and cladribine (2-chloro-2-deoxyadenosine, 2-CdA, Litak)–based treatment in two patients with Erdheim-Chester disease and present an ample pictorial documentation of radiological and nuclear medicine imaging modalities, including X-ray, computed tomography (CT), magnetic resonance imaging (MRI), single photon emission computed tomography (SPECT), positron emission tomography (PET) and hybrid PET/CT findings as well as those obtained by traditional bone scintigraphy. Materials and Methods: Two male patients, one born in 1953, the other in 1965, were diagnosed with Erdheim-Chester disease in 2008 and 2009, respectively. Both suffered from diabetes insipidus, B-symptoms (fever or subfebrile temperatures, fatigue) and pains in the long bones of the lower extremities. In the first patient, a series of MRI scans of the brain showed multiple lesions gradually increasing in number. The radiological findings were accompanied by newly developed neurological symptomatology (dysarthria, right hemiparesis and paresthesia). Both patients were treated with cladribine 5 mg/m2 SC, cyclophosphamide 150 mg/m2 IV (and dexamethasone 24 mg PO in the second patient) on days 1-5 of a 28-day cycle for 6 months in total. Bisphophonates (zoledronate 4 mg IV at 28-day intervals) as a long-term supportive therapy were administered. Results: In the first patient, bone pains receded and MRI showed a significant regression of all brain infiltrates, however, the neurological symptomatology has remainded and restaging PET/CT didn’t show a decrease of radiopharmaceutical uptake. Thus, partial remission has been achieved. In the second patient, remission of subjective symptoms as well as normalization of blood inflammatory markers and reduction of pathological hypermetabolism on restaging PET/CT examinations were achieved. We consider this therapy response as a complete remission. No therapy related adverse events were observed in the first case. In the second male, lymphocyte and neutrofil counts were decreasing during the treatment and by this induced immunodeficiency led to shingles eruption 2 months after cessation of therapy with the necessity of hospitalization and antivirotics prophylaxis initiation. Moreover, in our work we managed to document some of the typical manifestations of Erdheim-Chester disease like osteosclerosis, infiltration of the hypophysis, periaortic fibrosis (coated aorta) as well as retroperitoneal fibrosis reminding of Ormond’s disease. Conclusions: Treatment with cladribine–based regimens in two patients with Erdheim-Chester syndrome led to disease stabilization and remission, respectively. Therefore, we recommend cladribine to be standard part of treatments for this disease.
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