Case report: Cardiogenic shock managed with phlebotomy: An unusual case of end-stage cardiac hemochromatosis

Background Iron-overload cardiomyopathies can be a diagnostic challenge and are often overlooked in patients with new-onset heart failure with systolic and diastolic dysfunction. They can present as primary hemochromatosis, characterized by HFE gene mutations causing abnormal iron sensing and subsequent storage in various organs of the body, or as secondary overload syndromes in patients with history of transfusions. We present a case of a patient with end-stage hereditary hemochromatosis treated with phlebotomy and chelation therapy who had improvement in systolic function on follow-up. Case The patient is a 63-year-old female with new onset heart failure with systolic and diastolic dysfunction who presented for evaluation to our clinic with signs and symptoms of decompensated heart failure. She was admitted for management and further work up revealed hemochromatosis with multiple organ system involvement. Treatment was initiated with phlebotomy and chelation therapy. Follow up echocardiogram revealed significant improvement in systolic and diastolic dysfunction no longer necessitating transplant work up. Discussion Iron-overload syndromes are often asymptomatic early in the disease with evidence of rapid deterioration once there is clinical evidence of heart failure. Therapeutic phlebotomy is the treatment of choice in non-anemic patients before severe complications including cardiomyopathy develops. Our clinical case highlights a significant improvement in hemodynamics after initiation of phlebotomy. Phlebotomy is beneficial because it depletes body iron stores and oxidative stress and enhances vascular function.