WIDESPREAD VASCULOPATHY WITH HEMOLYTIC-UREMIC SYNDROME, PERIMYOCARDITIS AND CYSTIC PANCREATITIS IN A YOUNG WOMAN WITH MIXED CONNECTIVE-TISSUE DISEASE - CASE-REPORT AND REVIEW OF THE LITERATURE

A 15-year-old girl had severe Raynaud's phenomenon and arthralgias. A high ANA-IF titer was found and undifferentiated connective tissue dis ease was diagnosed. After 7 years of moderately flaring disease the pa tient deteriorated and presented with congestive heart failure, pleuro pericardial effusion, hemolytic uremic syndrome, proteinuria and moder ate hypertension. Autoantibodies against DNA, Sm-protein, and very hig h titers against U1RNP were detected. Therapy with high steroid doses, a cyclophosphamide pulse and 4 weeks of plasma-pheresis with plasma e xchange improved the heart, but not the renal condition. Symptomatic p ancreatitis became the dominant problem of a progressively consuming p rocess that resulted in the death of the patient. Post-mortem examinat ion revealed widespread vasculopathy with intima proliferation and onl y minimal fibrosis involving the kidneys, heart and other main organs, including the pancreas. Taken together, the clinical picture was of a n overlap between scleroderma and systemic lupus erythemathosus; the s erologic and histopathologic findings suggest a diagnosis of a severe form of mixed conective tissue disease (MCTD).