The most cited complaint for those with hemochromatosis is joint pain, but heart problems can also occur. The real problems start to occur when the iron builds up in the body’s tissues and leads to more serious conditions like arthritis, menopause, adrenal gland problems, thyroid deficiency problems, hearth problems pancreas problems, liver problems, gray skin, irregular heartbeat, diabetes, and even impotence.

All of the symptoms stem from problems caused to the organs through artificially large amounts of iron being stored in the body’s tissues.

The specific sites of the joint pain include the hands, hips, knees, and ankles so it can be hard to distinguish joint pain from other common causes like chronic pain caused by general wear and tear or old age. There are several types of liver damage and heart damage that can occur with hemochromatosis in the later stages of the disease’s hold on the body including liver inflammation, cirrhosis, liver cancer, and liver failure. Serious heart issues like irregular heartbeat, cardiomopathy, and heart failure can happen as well.

Specific sexual and cosmetic issues can include breast enlargement in men, atrophy of the testicles, loss of all body hair in rare cases, erection difficulties, and libido withdrawal and drain.

The advanced stages of hemochromatosis can portend plenty of serious symptoms like diabetes, chronically painful joints and muscle issues, darkened skin which gives an odd appearance, an enlarged spleen, and redness of the palms. If you sense that any of these symptoms are co-occurring in you, you should seek treatment from a doctor immediately and bring your ideas to his attention. Going without treatment can shorten your life.

Liver failure, liver cancer like hepatocellualar carcinoma or HCC, diabetes, and cardiomyopathy are the final results of going untreated for hemochromatosis.

Some of the early symptoms that you should watch out for include fatigue, weakness, nausea, and weight loss. Shortness of breath, dysfunction of the testicles, and arthritis soon follow. The advanced symptoms are those that cause fatal problems in the person like liver cancer and heart failure. It can be quite scary to have hemochromatosis because the first symptoms are merely unpleasant, but left untreated, it can lead to death.

More women than men are afflicted with hemochromatosis. Caucasian and European women seem to be the largest affected group. The symptoms start to occur most commonly after the age of 30 and 50. It is likely to occur in families.

Specifically, hemochromatosis is caused by a mutation in the gene that balances the amount of iron in the foodstuffs that you eat. Parents pass these genetic mutations down to children. The specific gene is called HFE. Each parent has an HFE gene so if both parents pass this gene down on to you, then the conditions are right for getting hemochromatosis. The chances are 25% that you’ll get hemochromatosis. However, both of your parents may not even have the disease. However, both genes being present doesn’t guarantee hemochromatosis. Only one gene will not give you the condition. The difference between normal people who eat iron and those with hemochromatosis is that those with condition absorb 20% more iron. The stored iron wreaks havoc on organs and cause organ failure and cirrhosis, as previously mentioned, as well as diabetes, another degenerative condition.

There are variations on the primary forms of hemochromatosis. These are called juvenile hemochromatosis and neonatal hemochromatosis. Symptoms occur much earlier in juvenile hemochromatosis. Neonatal hemochromatosis causes iron to build up rapidly in the baby’s liver leading to death.

Other causes of the disease can include iron pills, iron injections, vitamin C intake through enhanced absorption of iron through artificially high doses of vitamin C, and long-term kidney dialysis.

People that take supplements with iron and Vitamin C are also under high risk for developing the disease. Vitamin C causes a higher absorption of iron, and iron itself is stored up and builds up in the lungs if it is in the artificial inorganic form that is most often sold in supplements. Our body can only absorb food-form iron.

Blood transfusions are also another major cause of hemochromatosis. While you cannot catch it through blood transfusions, there can be such a large amount of iron in the blood that it causes an excessive buildup in your system. If you regularly get blood transfusions for an unrelated condition, you are at high risk for it.

A risk factor doesn’t necessarily guarantee that you’ll get the disease, but it makes the chances much higher. Different risk factors have different weighing amounts of importance when it comes to their co-incidence with the disease. A family history of arthritis or liver disease is a risk factor for the disease. These are the final results of having the condition for a very long time so it is not uncommon to see people in families with those conditions that also have other family members with hemochromatosis.

Some doctors may request a blood test for hemochromatosis even if you have no symptoms. Some people have so many risk factors that they are likely to get it so doctors request a gamut of tests to make sure you can spot it early. Talk to your doctor about potential risk factors to decide if you want to undergo the testing.

There are a set of doctors you can go to help you diagnose and treat the condition like a hematologist, cardiologist, endocrinologist, hepatologist, gastroenterologist, and rheumatologist. A doctor will also check for common symptoms with the naked eye like irregular heartbeats, arthritis, abnormal skin color, and an enlarged liver. Since the amount of iron in your blood may be normal, even though you have elevated levels in your body, there are specialized tests that have to be performed.

Chelating agents are the second line of defense for people that are unable to undergo phlebotomies for any reason. Chelating treatments can stop once iron levels return to normal in cases where the iron buildup was caused by vitamin overdoses or blood transfusions.

Ongoing monitoring of hemochromatosis is necessary to determine how treatment is going, and this may include liver biopsy, bone marrow aspirate, and CT scan or MRI. These three tests are used to determine how much iron is still left in the body. People that have developed advanced conditions of the disease may need treatment that is specific to that particular permutation, affliction, or condition that resulted from the hemochromatosis. Liver damage may require special medication or heart conditions may require their own treatments, for example.

Some people might require chelating agents if they have anemia that is result of other blood disorders and cannot undergo phlebotomies, severe hemochromatosis that isn’t being countered by phlebotomies, phlebotomy intolerance for various reasons, or a condition dependent on transfusions like hemophilia.

Phlebotomies can cause lots of symptoms like anemia, weakness, tiredness, lethargy, and fatigue. Drinking plenty of liquids, getting rest, and avoiding physical activity can all help the situation. Consult your internal medicine specialist, and he can recommend one or more specialists to give you the required treatments and monitor the progress of the treatments, secondarily.

Hemochromatosis treatment is most effective when it is carried out early. Early detection can be a boon to treatment. Hemochromatosis is not difficult to treat with the right care specialist. The right kinds of treatments usually involve a whole sub-set of modalities.