Atypical presentation of paroxysmal nocturnal hemoglobinuria treated by eculizumab: A case report

Abstract

Rationale: Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant acquired hematopoietic stem cell disease, which can be revealed by hemolytic anemia, thromboembolism, or bonemarrow failure. Thrombosis can occur at any site, but coronary thrombosis is extremely rare. Controlled trials have demonstrated that eculizimab, an inhibitor of the terminal complement cascade, was able to reduce both hemolysis and thrombosis, but its efficacy in cases of PNH with coronary thrombosis is unknown.

Patient concerns and diagnoses: We report herein the unusual case of a 73-year-old patient presenting with recurrent coronary syndromes without associated stenosis, fever, marked inflammatory syndrome, and anemia, leading to a delayed diagnosis of PNH.

Intervention and outcomes: Eculizumab allowed the resolution of fever and inflammation, and prevented further thromboembolism.

Lessons: This case emphasizes the importance of performing aflow cytometry test for PNH in front of unusual or unexplained recurrent thromboses. Thromboses, as observed in our case, may be associated with fever and marked inflammation. This case also provides useful information on eculizumab ability to prevent further thromboembolism in PNH patients with a medical history of arterial thrombosis.

Figure 1

Coronary catheterization images. A, The patient was admitted in cardiology department for acute thoracic pain in May 2013. Electrocardiogram evidenced inferior Q waves with ST elevation. Echography revealed antero-inferior akinesia. Coronary catheterization showed a thrombosis in the right coronary artery (arrow). B, A month later, the patient presented again with typical acute chest pain despite dual antiplatelet therapy and vitamin K antagonist. Electrocardiogram always evidenced inferior Q waves with no other abnormalities. Echography found the known antero-inferior akinesia. Ultrasensitive troponins were elevated (560 ng/L, n < 14). A new coronary catheterization was performed and evidenced a thrombosis in the right coronary artery and a new asymptomatic incomplete intraluminal obstruction of the circumflex artery (arrow).