An EMS unit is dispatched to evaluate a patient complaining of general malaise and joint discomfort. Upon arrival on scene, the crew encounters a 33-year-old male patient sitting alone in an apartment in no apparent distress. The patient tells the crew he has not felt well for the last couple of days, and that he awoke today with joint discomfort in his hands and arms.
As the crew assesses the patient, they note his surroundings are well kept. He does not appear to be in acute distress, and his skin is warm, pink and dry. The patient denies any potentially life-threatening symptoms such as chest pain or shortness of breath, and any past medical history. He denies alcohol or substance abuse, nausea, vomiting or diarrhea. His only complaint is general malaise and joint discomfort. Vital signs include a blood pressure of 118/58, a pulse of 88 and respirations of 20. There are no orthostatic changes. He is concerned about his unusual pain and requests to be seen by a physician. The EMS crew assists the patient to the ambulance for transport.
During transport there is no change in the man's status. He is transferred to the emergency department, where he is evaluated by staff. The ED physician performs a detailed assessment and identifies that the patient may have hepatomegaly and splenomegaly. The physician initially suspects a diagnosis of cirrhosis.
The patient's family arrives at the hospital a short time later. During questioning one member mentions that past family members have had a history of some "iron disease." Learning this, the ED physician requests additional lab work for the patient. The physician briefly describes hemochromatosis and recommends the family members be evaluated for it. The patient is subsequently admitted and scheduled for phlebotomy.
Hemochromatosis is a common inherited disorder of iron metabolism that affects between 1 in every 200 to 400 persons of northern European descent. Reported rates of incidence vary depending upon the reference consulted.1-3 Hemochromatosis is characterized by increased gastrointestinal iron absorption resulting in an excess of iron in the body, with subsequent tissue iron deposition.1-3 Iron is involved in the formation of hemoglobin that assists with the transportation of oxygen in red blood cells throughout the body, including muscle. It is obtained through food, and in most cases healthy individuals absorb about 10% of the iron in the food they ingest.1-3 Increased concentration of iron can be influenced through ingestion of ascorbic acid (vitamin C), ethanol and iron supplements.4 In cases of hemochromatosis, up to 30% of the iron is absorbed. Over time, an individual may retain 20 times what they actually need. The body has no natural way to remove excess iron, and so these excesses are stored in the liver, heart and pancreas.1-3
Hemochromatosis may be referred to by different names (see Table I) and has several forms.1-3 For example, primary, or hereditary, hemochromatosis is inherited, and caused by a defect in a specific gene called HFE. This gene assists with the regulation of iron absorption from food. Secondary hemochromatosis results from other causes, such as anemia or alcoholism.1-3
Other forms include juvenile and neonatal hemochromatosis.5-7 These result from an abnormality in a gene called hemojuvelin. Neonatal cases develop while the fetus is developing in utero. Unfortunately, neonatal hemochromatosis can be fatal for the baby. If the baby is born alive, death within a few months is possible due to the toxic effects of the iron.5 Juvenile hemochromatosis tends to be seen in individuals between the ages of 15 and 30. Mortality in these cases is often related to cardiac disease.6,7 For purposes of this discussion, we will focus on primary hemochromatosis. For additional information on neonatal hemochromatosis, visit www.neonatalhemochromatosis.org. For additional information on juvenile cases, see www.irondisorders.org/Disorders/JHemochromatosis.asp or www.gene tests.org/query?dz=jh.