Summary about Disease
Haemochromatosis (also spelled hemochromatosis) is a genetic disorder in which the body absorbs too much iron from food and stores it in organs, particularly the liver, heart, and pancreas. This excess iron can lead to organ damage, resulting in a variety of complications and chronic diseases. Early diagnosis and treatment are crucial to prevent serious health problems. It's often referred to as iron overload disease.
Symptoms
Symptoms of haemochromatosis can vary widely from person to person, and many people with the condition experience no symptoms, especially in the early stages. When symptoms do occur, they may include:
Fatigue
Joint pain (especially in the knuckles of the index and middle fingers)
Abdominal pain
Liver problems (e.g., enlarged liver, cirrhosis)
Diabetes
Heart problems (e.g., heart failure, arrhythmias)
Skin discoloration (bronze or gray)
Decreased libido
Erectile dysfunction
Weakness
Causes
Haemochromatosis is primarily caused by genetic mutations that affect the body's ability to regulate iron absorption. The most common mutation involves the HFE gene. People inherit two genes, one from each parent.
HFE-related hemochromatosis: This is the most common type and is caused by mutations in the HFE gene. The two most common mutations are C282Y and H63D. Individuals who inherit two copies of the C282Y mutation are at the highest risk of developing haemochromatosis.
Non-HFE-related hemochromatosis: Rarer forms are caused by mutations in other genes involved in iron regulation, such as HAMP, *HJV*, *TFR2*, and *SLC40A1*.
Medicine Used
The primary treatment for haemochromatosis is phlebotomy (blood removal), which is not a medication but a procedure. Medications are typically used to manage complications that arise from the condition.
Phlebotomy: Regular blood removal is used to reduce iron levels in the body. The frequency and amount of blood removed depend on the severity of the iron overload.
Chelation Therapy: In rare cases where phlebotomy isn't possible (e.g., due to anemia or other medical conditions), chelation therapy may be used. Chelation drugs bind to iron and help the body excrete it in urine or stool. Deferoxamine is the most common one.
Medications for Complications: Depending on which organs have been affected, medications to manage diabetes, heart problems, arthritis, or other related conditions may be necessary.
Is Communicable
No, haemochromatosis is not communicable. It is a genetic disorder, not an infectious disease, and cannot be spread from person to person.
Precautions
While you cannot prevent haemochromatosis if you have the genetic predisposition, the following precautions are important for managing the condition:
Early Diagnosis and Treatment: The most crucial precaution is to get diagnosed and treated early. This can prevent or minimize organ damage.
Dietary Modifications:
Limit iron-rich foods (e.g., red meat, liver).
Avoid iron supplements.
Limit vitamin C intake (as it enhances iron absorption).
Avoid excessive alcohol consumption (as it can exacerbate liver damage).
Regular Monitoring: If you have been diagnosed with haemochromatosis, regular monitoring of iron levels (ferritin and transferrin saturation) is important to ensure treatment is effective and to adjust it as needed.
Inform Family Members: Inform close family members about your diagnosis, as they may be at risk of carrying the gene mutation and should be screened.
Avoid Raw Shellfish: People with haemochromatosis are more susceptible to infections from bacteria found in raw shellfish.
How long does an outbreak last?
Haemochromatosis is not an outbreak but a chronic condition that results from long-term iron overload. The duration of symptoms and health problems associated with haemochromatosis depends on the severity of iron accumulation and the time before diagnosis and treatment. Lifelong management is typically required.
How is it diagnosed?
Haemochromatosis is diagnosed through a combination of:
Blood Tests:
Serum Ferritin: Measures the amount of iron stored in the body. Elevated levels are indicative of iron overload.
Transferrin Saturation: Measures the percentage of transferrin (a protein that carries iron in the blood) that is bound to iron. High saturation levels suggest excess iron in the blood.
Liver Function Tests (LFTs): To assess liver damage.
Genetic Testing: A blood test can identify the presence of mutations in the HFE gene or other genes associated with haemochromatosis. Genetic testing is often done to confirm the diagnosis, especially if blood tests are abnormal.
Liver Biopsy: In some cases, a liver biopsy may be performed to assess the extent of liver damage and iron deposition. This is less common now due to improvements in non-invasive testing.
MRI: Can be used to assess iron overload in the liver and other organs.
Timeline of Symptoms
The timeline of symptoms can vary significantly.
Early Stages: Often asymptomatic or with vague symptoms like fatigue or joint pain, often unnoticed. This stage can last for years.
Middle Stages: As iron accumulates, symptoms become more noticeable: abdominal pain, persistent fatigue, changes in skin pigmentation. Liver problems and diabetes may develop.
Late Stages: If untreated, significant organ damage occurs: cirrhosis, heart failure, severe diabetes complications, arthritis, and increased risk of liver cancer.
Important Considerations
Family Screening: Genetic testing of first-degree relatives (parents, siblings, children) is crucial for early detection.
Early Treatment is Key: Starting treatment (phlebotomy) before significant organ damage occurs can prevent or reverse many of the complications of haemochromatosis.
Monitoring: Regular monitoring of iron levels and organ function is necessary to adjust treatment and manage complications.
Lifestyle Modifications: Adopting a healthy lifestyle, including a balanced diet, avoiding excessive alcohol, and regular exercise, can help manage the condition.
Awareness: Raising awareness about haemochromatosis among healthcare professionals and the public is important to improve early diagnosis and treatment.