When left untreated, hemochromatosis can lead to complications in the joints and the organs, due to elevated levels of iron in these places. Affected joints include the knuckles, wrists, shoulders, knees, feet, and hips, while affected organs include the liver, pancreas, and heart. Some of the most common complications include an enlarged liver, cirrhosis, liver cancer, liver failure, arthritis, osteoporosis, an enlarged heart, an irregular heartbeat, congestive heart failure, erectile dysfunction, early menopause, hypothyroidism, an enlarged spleen, and damage to the adrenal glands. In addition, the skin may take on an abnormal color, most often a reddish-gray or bronze shade.
Liver problems typically range from an enlarged liver and scarring of the liver to liver cancer and liver failure. The former two complications are less severe, while the latter two conditions may be life-threatening. An enlarged liver, also called hepatomegaly, refers to a liver that is larger than normal in size. Scarring of the liver, otherwise known as cirrhosis, occurs in four stages, each stage more serious than the last. Liver cancer comes in various types, with hepatocellular carcinoma being the most common form. Lastly, liver failure means that the liver has lost its function and is far beyond repair.
The pancreas helps with both digestion and the regulation of blood sugar, so problems with this organ affect the body’s ability to convert food to fuel. Moreover, the failure of its endocrine function can lead to diabetes, hypothyroidism, hypogonadism, and hormone imbalances. Diabetes is often a consequence of pancreatitis, a condition in which inflammation of the pancreas occurs. Hypothyroidism means that the thyroid gland produces insufficient levels of thyroid hormone, and therefore the body’s metabolism does not run properly. Hypogonadism refers to poor functioning of the gonads which can lead to infertility and impotence, while hormone imbalances involve too little or too much of a hormone in the bloodstream.
Heart problems in the context of hemochromatosis generally include an enlarged heart, an irregular heartbeat, and congestive heart failure. Cardiomegaly is another word for an enlarged heart, a condition which means that a part of the heart is larger than normal. One of the more severe forms of cardiomegaly involves an enlarged left ventricle, which weakens the heart muscle over time. Irregular or uneven heartbeat is called an arrhythmia, which means that the heart beats at a rate or rhythm that is either too slow, too fast, or simply irregular. Lastly, congestive heart failure involves fluid buildup around the organ as well as inefficient pumping of the muscles that surround it.
Reproductive problems are another complication of hemochromatosis, since erectile dysfunction and a loss of sex drive are two common symptoms of the disorder in men, while women often experience an absence of menstruation due to toxic levels of iron in the body tissue. As a result, infertility and subfertility in both men and women is not uncommon. High levels of iron can reduce the quality of sperm due to increased oxidative stress, and can also affect sperm motility in a negative way. Furthermore, hemochromatosis may lead to inflammation, which is another contributing factor to low reproductive function. Once the disorder is addressed, however, women may still be able to conceive, either naturally or with the help of fertility treatments.