10 General Symptoms of Hemochromatosis

Although iron is an essential mineral in many body functions, too much of it can damage the heart, joints, liver, pancreas, and other organs. Several types of disorders lead to iron overload or excess iron, but the most common is hemochromatosis. There are several types, but one in every 200 to 300 people in the U.S. develop hereditary hemochromatosis, the most recognized form. Caucasian, middle-aged men of Northern European descent and post-menopausal women are most likely to develop the disease. Physicians diagnose most cases during routine blood work or family screenings. Only about one in 10 people who have the genes for hemochromatosis develop iron overload or damage to organs because of the disease.

Fatigue and Lack of Energy

Too much iron is toxic to the body. The liver secretes hepcidin, a hormone that maintains the balance of iron stores and suppresses iron absorption. Hemochromatosis disrupts hepcidin’s role, and iron levels rise. The excess iron causes issues with the internal organs that help regulate metabolism, often leaving a person feeling fatigued and weak. Research shows that 74% of people with hemochromatosis experience fatigue in the early stages.

Joint Pain (Arthralgia)

Around 44% of people with hemochromatosis experience joint pain. In most cases, symptoms first appear between 50 and 60 years of age. Women generally experience symptoms after 60, or about ten years after menopause. Because joint pain is a symptom in other conditions, the individual may dismiss it as a sign of the normal aging process. Between 25 and 30% of those with hemochromatosis develop arthritis in the knuckles of the pointer and middle finger. Referred to as “iron fist,” this is a specific symptom of the disease.

Abdominal Pain

Normal iron absorption occurs in the small intestine. Individuals with hemochromatosis experience a much faster rate of [iron] absorption than average, leading to an accumulation of iron. Most people absorb from 20 to 25% of the iron they consume through their diet, while hemochromatosis causes the retention of up to four times that amount. Excess iron deposits in the liver make it enlarge, leading to pain in the right upper quadrant under the ribs. Alternatively, the individual may feel pain in the center of the stomach. It is also common for people with hemochromatosis to experience digestive disturbances, including nausea, heartburn, constipation, or diarrhea.

Sexual Dysfunction

Hemochromatosis often affects sexual health. The pituitary gland regulates hormones, and if it becomes overloaded with iron, it prevents the sex hormones from being released as they are supposed to. Decreased sex drive is a common early symptom in both men and women. One study shows that 46% of men with the condition complained of a loss of libido, while 29% disclosed that they had difficulty achieving or maintaining an erection. Without treatment, hemochromatosis can lead to testicular shrinkage in men and hypogonadism in both men and women. Additionally, some women experience early menopause.

Loss of Body Hair

Iron overload is a systemic problem, meaning it affects various body systems. Hemochromatosis can mimic iron deficiency, causing symptoms such as hair loss. A person with hemochromatosis may notice that their hair is thinning or that they are losing body hair. The average person loses around 100 hairs each day. Hormonal changes and a variety of other conditions can cause hair loss. Individuals experiencing other symptoms, in addition to the loss of body hair, should seek medical advice.

Heart Arrhythmias

When iron is deposited in the heart, it can cause rhythm issues, and arrhythmias, where the heart beats too fast, too slow, or irregularly. Some individuals may feel a fluttering heartbeat or palpitations. Excess iron in this organ interferes with blood circulation and can lead to congestive heart failure if not corrected. One of the first symptoms may be shortness of breath with exertion. Cardiac disease is the presenting symptom for around 15% of patients who later receive a diagnosis of hemochromatosis.

Skin Pigmentation Changes (Hyperpigmentation)

Hyperpigmentation is a common symptom in about 90% of people with hemochromatosis. The symptom causes patches of skin to become darker in color than the surrounding skin, becoming brownish-bronze or gray. These patches may appear on scars, behind the ears, under the arms, under a protruding abdomen, in the groin, between the buttocks, in the webs between the fingers, between the toes, or on the areolas or genitals. Around 15% develop discoloration on the soft tissues that line the mouth, including the gums.

Enlargement of the Liver (Hepatomegaly)

The liver sits above the stomach and intestines and below the diaphragm. An enlarged liver is a symptom of a disease, such as a hemochromatosis, rather than a condition in itself. A large percentage of people with excess iron develop hepatomegaly, the medical term for an enlarged liver. The individual may experience no other signs indicating an enlarged liver other than abdominal pain. If they develop liver disease, however, they may have nausea and vomiting, extreme fatigue, and jaundice.

Diabetes

About half of people with hemochromatosis have either type 1 or type 2 diabetes mellitus. Beta cells in the pancreas produce, store, and release insulin. Iron overload damages these cells, impairing the body’s ability to produce insulin. Some people are genetically prone to diabetes, and hemochromatosis increases this risk, though early diagnosis can help prevent the complication.

Brain Changes and Hemochromatosis

Sometimes iron deposits build in the brain’s basal ganglia, structures key to movement, and the cerebellum, which coordinates voluntary motor movement and balance. Researchers disagree over whether systemic iron-loading disorders such as hemochromatosis affect the brain. Some studies indicate that people with multiple sclerosis have higher levels of iron in the basal ganglia. Other studies show that high levels of ferritin, a blood protein that contains iron, may lead to cognitive impairment. People with hemochromatosis often report memory fog, memory loss, depression, lethargy, or a combination of the symptoms. More research is required to thoroughly understand the effects of iron overload in the brain.