ANCA Associated Vasculitis in Patient with Hereditary Thrombophilia

Abstract

We here describe the clinical case of a patient who was diagnosed with worsening renal failure due to suspected vasculitis. Our chemical and histological findings confirmed the vasculitis with an uncertain clinical diagnosis either of Wegener granulomatosis or microscopic polyangiitis. Either way, this uncertainty did not influence the therapy, which, according to the guidelines, is the same for the two diseases. The patient was treated with methylprednisolone, cyclophosphamide, and plasmapheresis. However, the clinical outcome on renal function was not satisfactory, and start of hemodialysis was necessary. In this phase, repeated thrombotic episodes occurred, despite they never did before. Consequently, we performed blood tests on coagulation and thrombosis that revealed a condition of hyperhomocysteinemia. We then performed genetic testing and showed “hereditary thrombophilia” related to 3 genetic alterations. Treatment with heparin and folic acid has prevented the recurrence of thrombotic events. In conclusion, in our patient the picture of “ANCA-associated vasculitis” was developed on a “habitus of hereditary thrombophilia.” Therefore, the treatment of vasculitis alone was found unsatisfactory. The combination with the other disease has probably had a negative impact on renal prognosis, and its presence represented a confounding element for the clinical picture.