Skip to Main Content

KEY FEATURES

ESSENTIALS OF DIAGNOSIS

  • Fasting transferrin saturation > 50–60% is a sensitive screening test

  • Conduction abnormalities, arrhythmias, and heart failure

  • History of severe anemia with repeated blood transfusion

  • Bronze skin, diabetes, and liver cirrhosis

GENERAL CONSIDERATIONS

  • Autosomal recessive iron storage disease that involves the heart, as well as the pancreas, skin, liver, and gonads

  • Usually causes dilated cardiomyopathy, but may cause restrictive cardiomyopathy

  • Conduction abnormalities and supraventricular and ventricular arrhythmias occur in one-third of patients

  • Primary iron overload is due to inappropriately increased iron absorption from the gut

  • Secondary iron overload is due to repeated blood transfusions for severe anemia often due to thalassemia

CLINICAL PRESENTATION

SYMPTOMS AND SIGNS

  • Dyspnea, fatigue, edema

  • Diabetes

  • Hepatic cirrhosis, liver failure, or hepatoma

  • Pituitary failure

PHYSICAL EXAM FINDINGS

  • Irregular pulse, bradycardia, or tachycardia

  • Signs of congestive heart failure

  • Bronze skin

DIFFERENTIAL DIAGNOSIS

  • Idiopathic dilated cardiomyopathy

  • Idiopathic restrictive cardiomyopathy

DIAGNOSTIC EVALUATION

LABORATORY TESTS

  • Fasting transferrin saturation > 50% and elevated serum ferritin > 300 ng/mL

  • Genetic testing for mutations in iron regulatory genes should be performed if secondary causes of iron overload are ruled out

ELECTROCARDIOGRAPHY

  • Conduction disturbances

  • Supraventricular or ventricular tachycardia

IMAGING STUDIES

  • Echocardiography: may show systolic or diastolic dysfunction, chamber dilation, or hypertrophy. Strain imaging and speckle tracking hold promise for earlier detection of disease

  • Cardiac MRI with measurement of T2* relaxation times can help quantify myocardial iron overload

DIAGNOSTIC PROCEDURES

  • Myocardial biopsy may be required in some cases to establish the cause of cardiomyopathy

TREATMENT

CARDIOLOGY REFERRAL

  • Significant arrhythmias

  • Heart failure

HOSPITALIZATION CRITERIA

  • Severe heart failure

  • Heart block

  • Hemodynamically significant cardiac arrhythmias

MEDICATIONS

  • Iron chelation with deferoxamine

THERAPEUTIC PROCEDURES

  • Phlebotomy (cardiomyopathy may show dramatic recovery)

SURGERY

  • Cardiac transplantation in advanced cases

ONGOING MANAGEMENT

HOSPITAL DISCHARGE CRITERIA

  • Resolution of problem

FOLLOW-UP

  • Frequent and for an extended period

COMPLICATIONS

  • Heart block

  • Syncope

  • Cardiogenic shock

  • Sudden death

PROGNOSIS

  • Cardiac disease causes death in about one-third of hemochromatosis patients

  • Overall survival is less than a year in untreated patients with severe cardiac involvement

RESOURCES

PRACTICE GUIDELINES

  • Phlebotomy is effective for removing iron and improving myocardial function in primary hemochromatosis

  • Iron chelation ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.