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.

Risk Factors, Symptoms, Diagnosis

   The most common predisposing risk factors for hemochromatosis are family history, ethnicity and gender. Individuals with a close (first or second degree) relative such as a sibling, aunt/uncle or cousin who has been diagnosed with hemochromatosis are more likely to develop the disease. Hemochromatosis is more common among those of Northern European decent.1-3

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   While the genetic defect that causes primary hemochromatosis is present at birth, signs and symptoms may not occur until later in life. Males are five times more likely to develop hemochromatosis, and tend to experience symptoms at a younger age. Males are likely to be diagnosed when they are between 30 and 50 years of age. The average age of women diagnosed is 50.1-3 Women's risk increases following menopause or hysterectomy because iron losses associated with menstruation are no longer present.4

   Early symptoms can be vague, such as fatigue or general malaise, and patients may be initially misdiagnosed with common entities such as the flu. As the condition progresses, the symptoms may become more specific, such as joint discomfort and weight loss. With further progression the patient may develop abdominal pain, reduced libido and even cardiac complaints such as palpitations or various arrhythmias. Additional symptoms or signs, such as gray or bronze skin color, may also develop. Providers may note a classic triad of symptoms that includes cirrhosis, diabetes and increased skin pigmentation. Table II provides examples of possible symptoms.1-4,8-11

   The diagnosis of hemochromatosis will generally not be determined in the prehospital setting. It requires in-hospital assessment and lab/diagnostic procedures. Almost 75% of patients are asymptomatic.1-3 Diagnosis may occur when an elevated serum iron level is noticed during a chemistry-screening panel (e.g., during an annual visit to the doctor) or when screening is performed because a relative is diagnosed with hemochromatosis.1-3 Examples of advanced diagnostics and blood tests used include the transferrin saturation (TS) and serum ferritin (SF) tests. In general, the transferrin saturation test reveals how much iron is bound to the protein that carries iron in the blood. The total iron binding capacity test, or TIBC, measures how well the blood transports iron and the blood's iron concentration. The serum ferritin test reflects the level of iron in the liver. If the tests show higher-than-normal levels, a special blood test to detect the HFE gene mutation may be performed to help confirm the diagnosis.1-3,8-11


   Complications associated with hemochromatosis will be influenced by a variety of factors, including the patient's underlying health, presence of comorbid conditions, severity of the disease and treatment received. Complications can include arthritis (as many as 50% of patients may experience arthritis in the hand), impotence, diabetes mellitus, cirrhosis of the liver and heart failure.

   Providers are encouraged to perform a detailed and thorough assessment in an effort to consider all possible causes of the patient's condition. In treated patients, the most common cause of death is hepatocellular carcinoma. The development of such conditions can impact the patient's overall health and long-term outcome. Increased iron levels in combination with the development of complications can lead to a cascade of additional complications as the disease progresses.1-4

   Hemochromatosis can result in cirrhosis, and the advanced symptoms of hemochromatosis and cirrhosis can mimic each other. Symptoms can include hepatomegaly, loss of body hair, testicular atrophy, gynecomastia, spider angiomas of the skin and palmar erythema. Findings such as ascites, jaundice, asterixis (extremity tremor) and fetor hepaticus (foul breath) may indicate liver or hepatic involvement. Mental status changes, such as confusion, agitation or obtundation, may indicate several conditions, including hypoglycemia, hypoxia and hepatic encephalopathy. Fortunately, with appropriate identification and management, favorable outcomes are possible.

   Despite the presence of complications such as diabetes or congestive heart failure, providers should still utilize standard treatment regimens to manage these patients. Does the patient appear to be experiencing symptoms of congestive heart failure, such as shortness of breath, dyspnea on exertion or orthopnea? Do they have jugular vein distention, rales and/or pedal edema? Findings such as these may warrant treatment specific to CHF.

Assessment, Treatment

   As with any patient encounter, the assessment should begin with the patient's overall appearance, a detailed physical assessment, a review of the systems and a detailed medical history. Questions to consider asking include: What is the patient's level of consciousness? Do they have a chief complaint? Do they appear to be in obvious distress? Are there any clues on scene that reveal a possible cause for their symptoms, such as empty prescription or alcohol bottles? Are there any obvious signs of trauma?12,13

   Obtain a detailed medical history. This can be accomplished using the SAMPLE technique. Ask additional questions: Has the patient experienced similar discomfort in the past? If so, what relieved the symptoms? What, if any, events occurred prior to onset of the pain? What is the severity and duration of this episode? Has this episode remained consistent since onset, or has it varied? Has anything relieved the discomfort? Has the patient taken any medications or ingested any vitamins (e.g., vitamin C, iron)? Is there a report of alcohol or substance abuse? Has the patient experienced any nausea, vomiting or diarrhea? Are there symptoms or signs or physical findings of congestive heart failure? If the patient is female, is pregnancy possible?12,13

   Get vital signs early during the patient assessment. Assess heart rate, respirations, blood pressure, and temperature when possible. Reassess vital signs every 10 minutes, or more frequently as needed.12,13 If volume loss is suspected, providers may assess for the presence of orthostatic vital sign changes.


   Prehospital treatment will be influenced by a variety of factors, including the patient's chief complaint and overall condition, as well as provider judgment. If the patient has altered mentation, treatment may include oxygen, dextrose (for instance, for hypoglycemia) or naloxone (for instance, for opiate ingestion). Potential cardiac findings, such as an irregular heartbeat, palpitations or chest pain, may warrant cardiac monitoring. Pain may be managed with narcotic analgesia. The presence of nausea and vomiting should be treated as well. An intravenous line may be started and blood work obtained, depending on local protocols. While these cases may not appear to be immediately life threatening, providers should still perform a thorough assessment and manage the patient accordingly.12,13,15,16

   Long-term treatment will require consultation with specialists that may include hepatologists (liver disorders), gastroenterologists (digestive disorders) or hematologists (blood disorders). Other specialists, such as endocrinologists, cardiologists and rheumatologists, may also be involved.1-3,16

   Despite many recent advances in the understanding of hemochromatosis, the treatment remains quite simple. Phlebotomy, which is essentially collecting blood for either testing or transfusion, of 500 milliliters of whole blood every week is the current recommended treatment, although some patients may require more and others less. This is similar to donating blood; however, the intention is to reduce iron levels. If there is no organ damage and the patient receives appropriate care, they can usually expect to live a normal life. If organ damage has occurred, treatment can help avert additional damage, but existing damage can rarely be reversed. When treatment is not provided, cardiac failure, hepatocellular failure and hepatocellular carcinoma are common causes of death.1-3,16


   Hemochromatosis is a common inherited disorder of iron metabolism. Although EMS providers will not diagnose it in the field, it is valuable to understand hemochromatosis. It is also important to recognize that treatments, such as narcotic pain medication and antiemetics, are not necessarily contraindicated in these cases, and should be administered when indicated. Thorough attention to the elements of prehospital care, including a detailed assessment and medical history, will help guide appropriate treatment.

Table I: Alternative Names for Hemochromatosis

  • Bronzed cirrhosis
  • Bronze diabetes
  • Familial hemochromatosis
  • Genetic hemochromatosis
  • Haemochromatosis
  • HC
  • Hemochromatoses
  • HLAH
  • Iron storage disorder
  • Pigmentary cirrhosis
  • Primary hemochromatosis
  • Troisier-Hanot-Chauffard syndrome

Table II: Hemochromatosis Signs and Symptoms

Joint pain (arthritis, especially in the hands, knees, feet, wrists, back)

General malaise

Cardiac symptoms (irregular rhythms, CHF)

Abdominal pain

Reduced libido or impotence

Liver disease (cirrhosis, liver failure)

Abnormal skin pigmentation

Early menopause

Weight loss

Diabetes (high blood sugar)

Loss of hair

Shortness of breath

Right upper quadrant pain

Signs of fluid overload (peripheral edema, jugular vein distension)


1. CDC. Iron Overload and Hemochromatosis. www.cdc.gov/ncbddd/hemochromatosis.

2. National Digestive Diseases Information Clearinghouse. Hemochromatosis. http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm.

3. Genetics Home Reference. Hemochromatosis. http://ghr.nlm.nih.gov/condition=hemochromatosis.

4. Braunwald E, Fauci A, Kasper D, et al. Harrison's Principles of Internal Medicine, 15th edition. New York: McGraw-Hill, 2001.

5. Neonatal Hemochromatosis Information Center. www.neonatalhemochromatosis.org.

6. Iron Disorders Institute. Juvenile Hemochromatosis. www.irondisorders.org/Disorders/JHemochromatosis.asp.

7. MacFarlane J, Papanikalaou G, Goldberg Y. Juvenile Hereditary Hemochromatosis. www.genetests.org/query?dz=jh.

8. Mayo Clinic. Hemochromatosis. www.mayoclinic.com/health/hemochromatosis/DS00455/.

9. MedlinePlus. Hemochromatosis. www.nlm.nih.gov/medlineplus/hemochromatosis.html.

10. Iron Disorders Institute. Hemochromatosis. www.hemochromatosis.org.

11. America Hemochromatosis Society. www.americanhs.org/index.htm.

12. Bledsoe B, Porter R, Shade B. Paramedic Emergency Care. Upper Saddle River, NJ: Brady Prentice Hall, 1997.

13. Jones S, Weigel A, White R, et al. Advanced Emergency Care For Paramedic Practice. Philadelphia: J.B. Lippincott, 1992.

14. Knies RC. Orthostatic Measurement. Emergency Nursing World. http://enw.org/Research-Orthostatic.htm.

15. McManus J, Sallee D. Pain management in the prehospital environment. Emergency Medicine Clinics of North America 23(2): 415-31, May 2005.

16. Bacon B. Hemochromatosis: Diagnosis and management. Gastroenterology 120(3): 718-25, Feb 2001.

   Paul Murphy, MA, MSHA, EMT-P, has clinical and administrative experience in healthcare organizations.

   Chris Colwell, MD, is medical director for Denver Paramedics and the Denver Fire Department, as well as an attending physician in the emergency department at Denver Health Medical Center.

   Gilbert Pineda, MD, FACEP, is medical director for the Aurora Fire Department and Rural/Metro Ambulance (Aurora, CO), as well as an attending physician in the emergency departments at The Medical Center of Aurora and Denver Health Medical Center.

   Tamara Bryan Murphy, PA-C, MMS, is an emergency department physician assistant with Kaiser Permanente in Denver, CO, and Centura Health in Denver/Littleton, CO.

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