Hereditary Hemochromatosis as a Potential Contributor to Ischemic Stroke: A Case Report

遗传性血色素沉着症作为缺血性卒中的潜在诱因:病例报告

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Abstract

Hereditary hemochromatosis is a common inherited disorder of iron metabolism. It is classically associated with hepatic, cardiac, and endocrine complications. Neurologic manifestations, particularly ischemic stroke, are less commonly recognized and remain underrepresented in the literature. Our case focuses on a 54-year-old man with hereditary hemochromatosis who developed a subacute left pontine infarction in the absence of an identifiable cardioembolic source or large-vessel disease. Extensive evaluation failed to reveal a clear traditional etiology, prompting consideration of nontraditional risk factors. Given the patient's history of iron overload, a hypercoagulable and microvascular mechanism was considered. Iron overload has been associated with endothelial dysfunction, oxidative stress, and prothrombotic changes, which may predispose a patient to ischemic events. Posterior circulation structures, supplied by small perforating vessels, may be particularly vulnerable to microvascular injury. This case highlights the potential role of hereditary hemochromatosis as an underrecognized contributor to ischemic stroke. Awareness of iron overload-related hypercoagulability may broaden the differential diagnosis in patients with cryptogenic or posterior circulation strokes. Further studies are needed to better define the relationship between iron metabolism and cerebrovascular risk.

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