Dietary iron is an essential mineral that plays a crucial role in various bodily functions, including oxygen transport, energy production, and DNA synthesis. While certain levels of iron are necessary for good health, getting too little or too much iron can have adverse effects on the body. Some iron-related disorders, like iron deficiency anemia, can be prevented by factors like a healthy diet. Other disorders, like hereditary hemochromatosis, are inherited genetic disorders that can be passed on through first-degree relatives.

What Is Hereditary Hemochromatosis?

Hereditary hemochromatosis (sometimes spelled haemochromatosis) is a genetic disorder characterized by excessive absorption and accumulation of dietary iron in the body. People with this affliction take in too much iron from foods than would be normally needed for bodily functions. This excess iron is stored in various organs and tissues, particularly the liver, pancreas, heart, and joints. Over time, the buildup of iron can lead to organ damage and dysfunction, resulting in serious health complications like liver disease, cirrhosis, or even hepatocellular carcinoma, a type of liver cancer.

There are several types of hereditary hemochromatosis, and the most common is known as type 1. This type is unique in that it is the only one to be related to the HFE gene. It is also usually inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated before the disorder can develop. Hereditary hemochromatosis is a relatively rare condition, affecting roughly 1 out of 300-500 people. For reasons that aren’t fully understood, this condition has a higher prevalence in Americans of Northern European descent.

What Causes Hereditary Hemochromatosis?

The fundamental problem of iron overload in hereditary hemochromatosis is caused by genetic mutations that affect the regulation of iron absorption and metabolism in the body. As noted above, type 1 is the most common, and it is related to the human homeostatic iron regulator protein. This HFE protein is encoded by the HFE gene and works in part by regulating transferrin saturation in the bloodstream; transferrin is itself a glycoprotein that actually transports iron.

Under normal circumstances, the body tightly regulates the amount of iron absorption in order to maintain iron levels and prevent excess iron accumulation. However, in some people, mutations in the HFE gene disrupt this regulatory process, leading to increased absorption of dietary iron from the intestines; this happens even though iron stores in the body are already sufficient. Having high levels of body iron can result in a number of complications and symptoms that can range from mild to serious.

Symptoms of Hereditary Hemochromatosis

Hereditary hemochromatosis is sometimes referred to as a “silent” disease because it is possible to develop the disorder without experiencing any symptoms at all; even for those who do have symptoms, they may not begin to manifest until the disease progresses. As iron levels accumulate in the body over time, some symptoms and complications may start to arise:

  • Fatigue: One of the most common symptoms of excess iron in the blood is fatigue along with weakness and a general feeling of tiredness.
  • Joint pain: Having a lot of iron stored in the tissues and organs around the body (known as iron deposition) tends to cause pain, stiffness, and swelling in the joints, especially in the hands and knuckles.
  • Abdominal pain: Because of the tendency for excess iron to accumulate in the liver, it is possible for hereditary hemochromatosis to lead to liver enlargement. This in turn can result in pain, discomfort, or tenderness in the abdominal area.
  • Liver problems: In addition to enlargement, excess iron can cause liver damage or dysfunction; possible liver problems including fibrosis, cirrhosis, or liver failure. Moreover, people with hemochromatosis often have a more severe form of hepatitis (inflammation of the liver).
  • Heart problems: Hemochromatosis can also cause organ damage to the heart muscle, leading to cardiomyopathy (enlarged or weakened heart), arrhythmias (irregular heartbeats), heart failure, or even increase the chances of developing heart disease.
  • Skin changes: Iron overload can also result in changes to the skin, such as a bronze or grayish coloration in the face, hands, and feet.
  • Diabetes mellitus: In addition to excess iron being stored in the liver, it can also be stored in the pancreas; this can cause damage and potentially interfere with the normal production of insulin. Without the regular function of insulin, the patient is at an increased risk of diabetes mellitus.
  • Impaired organs: Iron can accumulate in various other organs as well; this can cause damage or dysfunction in the thyroid, adrenal glands, endocrine glands, pituitary glands, and gonads (hypogonadism).
  • Sexual health: In men, iron overload may lead to decreased sex drive, erectile dysfunction, or testicular atrophy. In women, it may cause irregular menstruation or early menopause.

Diagnosis and Treatment Options for Hereditary Hemochromatosis

Even though symptoms may not always be present at the outset, it is usually the presence of some of the symptoms noted above that prompts a diagnostic process. In addition to reviewing family history and a physical exam, one of the first steps is blood tests that examine transferrin saturation and serum ferritin levels; this will help the doctor determine if a higher-than-normal amount of iron is present in the bloodstream. Other approaches, such as genetic testing, liver biopsy, and magnetic resonance imagining (MRI), may also be necessary depending on the kind of abnormalities seen in the early diagnosis.

The primary goal of treatment for hereditary hemochromatosis is to reduce iron levels in the body and prevent or minimize complications associated with iron overload. Treatment typically involves a combination of techniques that are based on the individual needs of the patient. Below are some common treatment options:

  • Phlebotomy: Therapeutic phlebotomy is the go-to treatment for hereditary hemochromatosis; in this procedure, blood is removed from the body at regular intervals over a span of weeks or months. Through this process, iron-rich red blood cells are removed from the bloodstream until iron levels have returned to normal.
  • Diet changes: In some cases changes to the diet can be part of treatment. This typically involves limiting the intake of iron-rich foods like red meat and liver. Patients are also recommended to avoid iron supplements and vitamin C supplements since vitamin C can enhance iron absorption.
  • Symptom treatment: While working to lower iron levels in the blood, pain relievers and anti-inflammatory medications may be used to ease the symptoms.
  • Iron chelation therapy: In rare cases where phlebotomy is ineffective and the iron overload is severe, iron chelation therapy may be considered. This medication binds to excess iron in the body and facilitates its excretion through urine or feces.

    Contact Cary Gastroenterology

    While there are some potentially serious complications associated with hereditary hemochromatosis, with the right treatment it can be managed successfully in the vast majority of cases. And since iron is absorbed through the gastrointestinal system and can have an impact on the digestive tract, our dedicated team of healthcare professionals like those at Cary Gastro are ready and willing to help you get the treatment you need. Please contact us today to request an appointment.