Because of hereditary hemochromatosis, your body absorbs an excessive amount of iron from the food you eat. Excess iron is retained in your organs, especially your liver, heart and pancreas. Too much iron can cause life-threatening illnesses like liver disease, heart disease, and diabetes.
The genes that cause hemochromatosis are inherited, although only a small percentage of people with the genes experience major complications. Hereditary hemochromatosis symptoms commonly occur in middle age.
Blood is removed from your body on a regular basis as part of treatment. Because much of the body's iron is contained in red blood cells, this medication lowers iron levels.
WHAT ARE THE SYMPTOMS OF HEMOCHROMATOSIS?
Some persons with hereditary hemochromatosis do not exhibit any symptoms. Early indications and symptoms of other common illnesses frequently coincide.
Among the signs and symptoms are:
- Joint pain
- Pain in the abdomen
- Fatigue
- Liver failure
- Skin tone of bronze or gray
- Weakness
- Diabetes
- Sex drive loss
- Impotence
- Heart failure
- Memory haze
When do signs and symptoms usually appear?
Hereditary hemochromatosis manifests itself at birth. However, most people do not notice indications and symptoms until later in life, usually around the age of 40 in males and 60 in women. Women are more prone to experience symptoms after menopause since they no longer lose iron through menstruation and pregnancy.
WHAT ARE THE CAUSES OF HEMOCHROMATOSIS?
Hereditary hemochromatosis is caused by a mutation in a gene that regulates how much iron your body absorbs from diet. These mutations are passed down from generation to generation. This is by far the most frequent kind of hemochromatosis.
Hemochromatosis-causing gene mutations
Hereditary hemochromatosis is most commonly caused by the HFE gene. Each of your parents gives you one HFE gene. C282Y and H63D are two frequent variants in the HFE gene. If you have certain mutations in your HFE gene, genetic testing can disclose them.
- Hemochromatosis can occur if you inherit two faulty genes. The mutation can also be passed on to your children. But not everyone who inherits two genes suffers difficulties associated to the iron overload of hemochromatosis.
- You are unlikely to get hemochromatosis if you inherit just one faulty gene. However, you are a carrier of the gene mutation and can pass it on to your children. However, unless your children have acquired another defective gene from the other parent, they will not develop the condition.
The effects of hemochromatosis on your organs
Iron is necessary for various bodily functions, including the creation of blood. But too much iron is harmful.
The liver secretes a hormone called hepcidin, which regulates how iron is used and absorbed in the body, as well as how excess iron is stored in various organs. The usual job of hepcidin is interrupted in hemochromatosis, leading your body to absorb more iron than it requires.
This extra iron is kept in major organs, particularly the liver. Over time, the accumulated iron can cause serious harm, leading to organ failure and chronic disorders like cirrhosis, diabetes, and heart failure. Despite the fact that many people have defective genes that cause hemochromatosis, not everyone develops iron excess to the point that tissue and organ damage occurs.
The only kind of hemochromatosis is hereditary hemochromatosis. Other types are as follows:
- Juvenile hemochromatosis: This produces the same issues in children as hereditary hemochromatosis does in adults. But iron accumulation occurs much earlier, and symptoms commonly appear between the ages of 15 and 30. Mutations in the hemojuvelin or hepcidin genes cause this illness.
- Neonatal hemochromatosis: Iron accumulates fast in the liver of the developing kid in the womb in this severe condition. It is believed to be an autoimmune disorder in which the body assaults itself.
- Secondary hemochromatosis: This type of sickness is not inherited and is commonly known as iron overload. People suffering from anemia or chronic liver disease may require multiple blood transfusions, which can result in excessive iron buildup.
WHAT ARE THE RISK FACTORS FOR HEMOCHROMATOSIS?
Factors that enhance your risk of hereditary hemochromatosis include:
- Having 2 copies of a mutated HFE gene: This is the leading cause of hereditary hemochromatosis.
- Family history: You are more likely to acquire hemochromatosis if you have a first-degree family — a parent or sibling — who has the disease.
- Ethnicity: Northern Europeans are more susceptible to hereditary hemochromatosis than those of other ethnic backgrounds. People of Black, Hispanic, and Asian origin are less likely to have hemochromatosis.
- Your sex: Men are more prone than women to develop hemochromatosis symptoms at a younger age. Women tend to keep less iron than males because they lose it during menstruation and pregnancy. Women are more vulnerable after menopause or a hysterectomy.
WHAT ARE THE COMPLICATIONS OF HEMOCHROMATOSIS?
Untreated, hereditary hemochromatosis can cause a variety of issues, particularly in your joints and organs where extra iron is deposited, such as your liver, pancreas, and heart. Possible complications include:
- Liver problems: Cirrhosis, or permanent scarring of the liver, is just one of the issues that might arise. Cirrhosis increases your chances of developing liver cancer and other potentially fatal problems.
- Diabetes: Diabetes can be caused by pancreatic damage.
- Heart issues: Excess iron in your heart impairs its ability to circulate enough blood to meet your body's needs. This is referred to as congestive heart failure. Hemochromatosis can also induce irregular heartbeats (arrhythmias).
- Reproductive issues: Excess iron can cause to erectile dysfunction (impotence), and loss of sex drive in men and absence of the menstrual cycle in women.
- Skin color changes: Iron deposits in skin cells can cause your skin to appear bronze or gray in tone.
HOW IS HEMOCHROMATOSIS DIAGNOSED?
Hereditary hemochromatosis is notoriously difficult to diagnose. Early symptoms like stiff joints and weariness could be caused by something other than hemochromatosis.
Many persons with the condition have no symptoms other than high iron levels in their blood. Hemochromatosis can be detected through abnormal blood tests performed for other reasons or through screening of family members of patients with the illness.
Blood tests
The two most important tests for detecting iron excess are:
- Serum transferrin saturation: This test determines the quantity of iron linked to a protein (transferrin) in your blood. Saturation levels of transferrin greater than 45 percent are considered excessive.
- Serum ferritin: This test determines how much iron is stored in your liver. If your serum transferrin saturation test results are higher than expected, your doctor will evaluate your serum ferritin.
Because increased ferritin can be caused by a variety of other illnesses, both blood tests are frequently abnormal in patients with this disorder and are best administered after you have fasted. Elevations in one or more of these iron blood tests can be detected in various illnesses. For the most reliable results, the tests may need to be repeated.
Additional testing
Your doctor may recommend more testing to confirm the diagnosis and rule out any other issues:
- Liver function tests: These tests can aid in the detection of liver disease.
- MRI: An MRI is a quick and painless approach to determine the extent of iron overload in your liver.
- Gene mutation testing: If you have excessive levels of iron in your blood, you should get your DNA tested for mutations in the HFE gene. Discuss the benefits and drawbacks of genetic testing for hemochromatosis with your doctor or a genetic counselor.
- Taking a liver tissue sample for testing (liver biopsy): If liver damage is suspected, your doctor may extract a sample of liver tissue with a fine needle. The sample is sent to a laboratory to be tested for iron as well as indications of liver disease, particularly scarring or cirrhosis. Bruising, bleeding, and infection are among risks of a biopsy.
- Hemochromatosis screening in healthy people: All first-degree relatives — parents, siblings, and children — of everyone diagnosed with hemochromatosis should undergo genetic testing. If only one parent has a mutation, the children do not need to be tested.
WHAT ARE THE TREATMENTS FOR HEMOCHROMATOSIS?
Blood removal
Doctors can safely and efficiently treat hereditary hemochromatosis by withdrawing blood from your body on a regular basis (phlebotomy), exactly as if you were donating blood.
The purpose of phlebotomy is to normalize your iron levels. The volume of blood extracted and the frequency with which it is removed are determined by your age, overall health, and the severity of iron excess.
- Initial treatment plan: Initially, you may be given a pint (470 milliliters) of blood once or twice a week, usually at a hospital or doctor's office. A needle is put into a vein in your arm while you are reclined in a chair. Blood pours from the needle into a tube connected to a blood bag.
- Maintenance treatment plan: Once your iron levels have recovered to normal, you can have blood drawn less frequently, usually every two to three months. Some people can maintain appropriate iron levels without having blood drawn, while others may need blood drawn weekly. The timetable is determined by how quickly iron accumulates in your body.
Treatment for inherited hemochromatosis can help relieve symptoms such as fatigue, stomach pain, and skin discoloration. It can aid in the prevention of major problems such liver disease, heart disease, and diabetes. If you already have one of these illnesses, phlebotomy may help to delay or even reverse its progression.
Phlebotomy will not cure cirrhosis or joint pain, but it will help to delay its progression.
If you have cirrhosis, your doctor may advise you to have regular screenings for liver cancer. An abdominal ultrasound and CT scan are frequently required.
Chelation for persons who are unable to get their blood removed
If you are unable to undergo phlebotomy due to anemia or heart issues, your doctor may offer a drug to eliminate extra iron. The drug can be injected into your body or taken orally. The drug binds excess iron, allowing your body to excrete it through your urine or stool, a process known as chelation. Chelation is not routinely utilized in the treatment of hereditary hemochromatosis.
HOME REMEDIES FOR HEMOCHROMATOSIS
In addition to therapeutic blood removal, you may lower your risk of hemochromatosis consequences if you:
- Iron supplements and multivitamins with iron should be avoided: These can enhance your iron levels even higher.
- Vitamin C supplementation should be avoided: Iron absorption is increased by vitamin C. However, there is usually no need to limit your vitamin C intake.
- Stay away from alcohol: In those with hereditary hemochromatosis, alcohol significantly increases the risk of liver injury. Avoid alcohol totally if you have inherited hemochromatosis and already have liver damage.
- Consume no raw fish or shellfish: Infections caused by certain bacteria found in raw fish and shellfish are particularly dangerous for those with hereditary hemochromatosis.
People undergoing blood removal treatment usually do not need to make any additional dietary modifications.