Many sufferers of hemochromatosis show no symptoms at all, and since undiagnosed or misdiagnosed cases of the disorder can lead to death, hemochromatosis is sometimes referred to as a silent killer. When symptoms do occur, however, they most often include abdominal pain, loss of body hair, heart or liver failure, chronic fatigue, depression, weight loss, weakness, joint pain or arthritis, diabetes, impotence, change in skin color, memory fog, and loss of sex drive. Of these, chronic fatigue and joint pain are two of the most common symptoms.
Most signs and symptoms of hemochromatosis resemble those of other diseases, but the iron fist is one symptom that is unique to hemochromatosis and is therefore often the first sign of the disorder. The so-called iron fist refers to pain in the knuckles, specifically of the pointer and middle finger, which may also be accompanied by swelling, a loss of motion, and the inability to open one’s fist. In more scientific terms, there is an enlargement of the second and third metacarpophalangeal joints, otherwise known as MCP joints. While the iron fist is a telltale sign of hemochromatosis, it’s not so reliable since only a percentage of sufferers will experience this symptom.
Hereditary hemochromatosis is present at birth, but signs and symptoms typically only turn up between the ages of 30 and 50 in men and between the ages of 50 and 60 in women. Alternatively, women may experience signs and symptoms 10 to 15 years after stopping their period, either due to menopause, birth control pills, or a vaginal hysterectomy. The reason for this gender difference in the onset of signs and symptoms is most likely due to the fact that prior to menopause, women experience blood loss both from menstruation and from childbirth, so the excess iron in the blood is flushed out from the body. In men, however, iron overload is more severe earlier in life, because this flushing out of iron does not occur.
Numerically speaking, an iron level of 4 to 5 grams in men is considered to be normal, but symptoms often occur only after the body has stored upwards of 20 grams. In terms of ferritin levels, normal levels hover between 20 and 300 nanograms per milliliter, while levels above 1,000 nanograms per milliliter indicate an increased risk of liver damage. Ferritin is an iron-containing protein that stores iron in the cells, so ferritin blood tests are therefore used to measure the amount of iron in the blood. In women, ferritin levels above 200 nanograms per milliliter are considered to be abnormal.
While it’s not possible to prevent hemochromatosis altogether, it is possible to treat the disorder before symptoms appear and organ damage occurs. If hemochromatosis is suspected and a close family member has previously been diagnosed with the disorder, the patient can be screened for the HFE gene defect and treated accordingly. When hemochromatosis is caught early, the disorder is said to be very treatable and sufferers can most often live healthy lives without complications. When hemochromatosis is addressed after damage to the organs has already begun, it’s sometimes possible to stop and reverse the damage, though other times the damage is irreversible and organ failure remains a possibility.