Introduction: Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytic disorder, characteri-zed by excessive production and accumulation of ma-crophages, therefore tissues becomes thickened, dense and fibrotic. Since first description in 1930, only sevral hundred cases have been reported. Cardiovascular in-volvement of this disease are heterogeneous: pericar-dial infiltration leading to tamponade, myocardial in-filtration, heart failure, symptomatic valvular heart di-sease, myocardial infarction, atrial tumors and vascular disease, mostly through extrinsic mechanism.
Methods: We present the case of a 70 year old man, with bilateral carotid endarterectomy in 2008, asymp-tomatic until 2017 when he was admitted to hospital for recurrent pleurisy. CT scan shows poliserositis (ple-urisy and pericarditis) and also bilateral periaortic and perirenal dense, fibrotic tissue, highly suggestive for Erdheim Chester disease. Perirenal biopsy was made, histological examination showing histiocyte inflitra-tions that expressed CD68 / PGM1 fascine and factor XII. Multiple abdominal and pelvic CT scans were per-formed, last examination in February 2018, revealing right kidney atrophy, without excretion time.
Nowadays, he develops progressive shortness of bre-ath, fatigue and high blood pressure levels, up to 180 mmHg, mostly in the last month, despite low sodium diet and maximal antihypertensive medication. Lab test showed progressive kidney failure (creatinine le-vel of 2.5 mg/dl, relative to 1.5 mg value in 2017). TTE showed normal left cavities, preserved systolic function and inferobasal hypokinesia, small pericardial effusion and thickening of visceral pericardial layer. Arterial Doppler examination shows turbulent blood flow in the proximal segment of the left kidney artery, with high systolic velocity, suggestive for significant steno-sis. Contrast abdominal and pelvic angioCT scan re-veals stationary dimension of aortic dilatation without evidence of thrombosis as well as significant left renal artery stenosis and no flow in the right kidney artery, with subsequent renal atrophy. After removing ACE inhibitors from his medication, creatinine level only slightly improved.Therefore, renal arteriography is performed and a 7 mm stent is successfully implanted. One day after stent implantation, creatinine has a significant improvement, reaching 1.3 mg/dl. At discharge, arterial blood pressure values are decreasing, requiring lower dose of antihypertensive drugs. In order to pre-scribe the pathogenic treatment for ECD, hematologic consult is performed, and the BRAF V600F gene mu-tation is tested in order to initiate treatment with ve-murafenib.
Conclusions: Erdheim Chester syndrome is a fatal di-sease, with multi-organ damage and rapid progression, therefore diagnostic precocity is a key element. Vascular involvement was described with a plot of medium and large artery involvement in several territories. Althou-gh few cases treated with vemurafenib were described, initiation of treatment contributes to increased survival in patients with positive BRAF V600 gene mutation.