Cardiogenic shock managed with phlebotomy: an unusual case of end-stage cardiac hemochromatosis

TL;DR

A 63-year-old woman with end-stage heart failure due to hemochromatosis showed significant improvement after phlebotomy and chelation therapy.

Contribution

This case highlights the effectiveness of phlebotomy in managing cardiogenic shock caused by hereditary hemochromatosis.

Findings

The patient showed significant improvement in systolic and diastolic dysfunction after treatment.

Phlebotomy reduced iron overload and improved hemodynamics, avoiding the need for a transplant.

Early treatment with phlebotomy can prevent severe complications of hemochromatosis.

Abstract

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 that had improvement in systolic function on follow-up.

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.

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.

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