LABORATORY EVALUATION OF HEREDITARY HEMOCHROMATOSIS

Course overview

HEREDITARY HEMOCHROMATOSIS (HH) IS A DISORDER CHARACTERIZED BY EXCESSIVE ABSORPTION AND IRON ACCUMULATION. HH IS THE MOST COMMON INHERITED DISORDER AMONG PEOPLE OF NORTHERN EUROPEAN ANCESTRY, WITH A SIMILAR DISEASE PREVALENCE IN THE UNITED STATES, EUROPE, AND AUSTRALIA. HOWEVER, MOST PATIENTS WITH HH ARE ASYMPTOMATIC, AND THE DISEASE IS OFTEN AN INCIDENTAL DISCOVERY. SYMPTOMS DO NOT USUALLY MANIFEST UNTIL MIDDLE AGE. IF HH GOES UNDIAGNOSED OR IS LEFT UNTREATED, IRON DEPOSITION IN THE LIVER, PANCREAS, MYOCARDIUM, ANTERIOR PITUITARY, AND OTHER ENDOCRINE ORGANS CAN CAUSE SIGNIFICANT MORBIDITY; PATIENTS WITH HH HAVE A SIGNIFICANTLY INCREASED RISK OF HEPATOCELLULAR CARCINOMA. THIS ACTIVITY REVIEWS THE APPROACH TO PATIENTS WITH HH, THE ROLE OF DIAGNOSTIC TESTING IN THE EVALUATION AND MONITORING OF HH, AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN IMPROVING OUTCOMES FOR PATIENTS WITH HH.