Overview
Hemochromatosis is a condition where your body absorbs too much iron from the food you eat, leading to excess iron storage in your organs, particularly the liver, heart, and pancreas. Excess iron can cause life-threatening conditions such as liver disease, heart problems, and diabetes. There are different types of hemochromatosis, but the most common one is hereditary, caused by a gene change passed down through families. Symptoms usually appear in midlife, and they may include joint pain, abdominal pain, fatigue, weakness, diabetes, loss of sex drive, impotence, and heart failure. Treatment involves regular blood removal to lower iron levels.
Understanding the disease
Symptoms
The symptoms of hemochromatosis may include joint pain, abdominal pain, fatigue, weakness, diabetes, loss of sex drive, impotence, heart failure, bronze or gray skin color, and memory fog. People with a family history of hemochromatosis should consult their healthcare provider about genetic testing. Men are more likely to develop symptoms at an earlier age than women, but women's risk increases after menopause or a hysterectomy. Untreated hemochromatosis can lead to liver problems, diabetes, hepatitis, jaundice, anemia, thrombocytopenia, heart problems, complications involving the nervous system, and swollen tonsils.
Risk Factors
Risk factors for developing hemochromatosis include having two copies of an altered HFE gene, family history of the disease, ethnicity (people of Northern European descent are more prone to it), and being male. After menopause or a hysterectomy, women's risk of developing symptoms increases.
Development
The different types of hemochromatosis develop due to genetic factors and the buildup of excess iron in the body. Hemochromatosis is primarily caused by an inherited genetic mutation, which affects the body's ability to regulate iron absorption and storage.
- Hereditary hemochromatosis: This is the most common form of hemochromatosis, caused by a gene change passed down through families. People with two copies of an altered HFE gene are at the greatest risk of developing the disease. Symptoms typically appear in midlife.
- Juvenile hemochromatosis: This form of the disorder affects young people and is caused by changes in the hemojuvelin or hepcidin genes. Iron buildup begins much earlier, and symptoms usually appear between the ages of 15 and 30.
- Neonatal hemochromatosis: This severe form of hemochromatosis occurs in the developing baby in the womb. It is thought to be an autoimmune disease, in which the body attacks itself, causing rapid iron buildup in the liver.
- Secondary hemochromatosis: This form of the disease is not inherited and is often referred to as iron overload. People with certain types of anemia or liver disease may often need multiple blood transfusions, which can lead to excess iron buildup. In all forms of hemochromatosis, the excess iron accumulates in major organs like the liver, heart, and pancreas, causing damage over time. This excess iron can lead to life-threatening conditions, such as liver disease, heart problems, and diabetes.
Assessment and Diagnosis
Triage
You should see a doctor if hemochromatosis is suspected based on your symptoms or family history. Consult your healthcare provider if you experience any of the symptoms mentioned, such as joint pain, abdominal pain, fatigue, weakness, diabetes, loss of sex drive, impotence, heart failure, or if you have an immediate family member with the condition. Early detection and treatment can prevent complications and improve your overall health.
Diagnosis
To diagnose hemochromatosis, health care providers typically rely on blood tests that measure iron levels and iron storage in the liver. The two key tests for iron overload are serum transferrin saturation and serum ferritin. If hemochromatosis is suspected, a liver biopsy may be performed to remove a tissue sample for testing. Additionally, genetic testing is recommended for family members of people diagnosed with hemochromatosis. If you have high levels of iron in your blood, it is important to discuss your symptoms and medical history with your healthcare provider to determine the most appropriate diagnostic tests and treatment options.
Management and Treatment
Complications
Complications of hemochromatosis can include liver problems such as cirrhosis, which can increase the risk of liver cancer and other life-threatening complications. Hemochromatosis can also lead to diabetes, heart problems, and issues with the nervous system. Other potential complications may include anemia, thrombocytopenia, and swollen tonsils.
Prevention
regarding the prevention of hemochromatosis.
Treatment
The primary treatment for hemochromatosis is to regularly remove blood from the body, which helps lower iron levels. This process is called phlebotomy and is typically done on a weekly or biweekly basis. In some cases, medications may be used in combination with phlebotomy to further reduce iron levels. The goal of treatment is to prevent complications such as liver disease, heart problems, and diabetes.