Hereditary hemochromatosis (HH) is an autosomal recessive disorder that occurs in approximately 1 in 200-250 individuals. Mutations in the HFE gene lead to excess iron absorption. Excess iron in the form of non-transferrin-bound iron (NTBI) causes injury and is readily uptaken by cardiomyocytes, pancreatic islet cells, and hepatocytes. Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure. Untreated hemochromatosis can lead to chronic liver disease, fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). Many invasive and noninvasive diagnostic tests are available to aid in diagnosis and treatment. MRI has emerged as the reference standard imaging modality for the detection and quantification of hepatic iron deposition, as ultrasound (US) is unable to detect iron overload and computed tomography (CT) findings are nonspecific and influenced by multiple confounding variables. If caught and treated early, HH disease progression can significantly be altered. Area covered: The data on Hemochromatosis, iron overload, and MRI were gathered by searching PubMed. Expert commentary: MRI is a great tool for diagnosis and management of iron overload. It is safe, effective, and a standard protocol should be included in diagnostic algorithms of future treatment guidelines.
We present a case of reverse takotsubo syndrome (rTS) in a 68-year-old woman who presented with acute chest pain and flu-like symptoms. She was found to have elevated troponin and abnormal ECG. Urgent coronary angiogram revealed non-obstructive mild coronary artery disease of the left anterior descending artery. Left ventriculography demonstrated hypokinesis of the left ventricular base with sparing of the mid-ventricle and apex. Nasal viral PCR was positive for Influenza A. The diagnosis was confirmed with repeat echocardiogram 2 weeks later revealing resolution of regional wall motion abnormalities. rTS is a type of TS, mimicking acute coronary syndrome. It is seen in younger patients and often occurs with intense emotional and physical stress. Though many triggers have been reported, rTS associated with influenza A has not been previously documented.
Inspired by the ABIM Foundation’s Choosing Wisely® campaign, the “Things We Do for No Reason™” (TWDFNR) series reviews practices that have become common parts of hospital care but may provide little value to our patients. Practices reviewed in the TWDFNR series do not represent clear-cut conclusions or clinical practice standards but are meant as a starting place for research and active discussions among hospitalists and patients. We invite you to be part of that discussion.
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