A 44-Year-Old Woman With Fatigue: A PBL Case on Hereditary Hemochromatosis

Abstract

Abstract Hereditary hemochromatosis (HH) is an autosomal recessive disorder that causes an abnormally increased iron absorption in the body resulting in progressive iron overload and subsequent organ damage. This problem-based learning (PBL) case involving a 44-year old European woman illustrates the importance of recognizing HH as the cause of vague presenting symptoms (e.g., fatigue). The case also stresses the need to identify less common mutations leading to the condition in the context of high clinical suspicion in susceptible populations. Students are expected to pay special attention to normal iron metabolism as well as the genetic defects, inheritance pattern, variety of presenting features, and pathophysiology of the disease (particularly the hepatic manifestations). This resource contains cues, hypotheses, learning issues, and a guide for preceptors. HH is a prevalent, yet under-diagnosed condition presenting with vague multi-organ complaints. A PBL case like this will encourage students to research a broad spectrum of resources to arrive at answers to their questions and hypotheses regarding autosomal disorders.

Keywords

• Cirrhosis
• Fibrosis
• Hemochromatosis
• Iron Overload
• Iron Metabolism Disorders
• Liver Function Tests