Hemochromatosis
All the information about the causes, symptoms, complications, and treatment of excess iron in the body.
Symptoms and Causes
Hemochromatosis is a disorder in which the body absorbs more iron than is lost daily, causing iron to accumulate in organs and become toxic. The excess iron usually deposits in the skin, joints, liver, pancreas, heart, or endocrine glands.
There are two main types of hemochromatosis:
- Hereditary or primary hemochromatosis: This is the most common type. It is a genetic disorder with autosomal recessive inheritance, meaning that a person must inherit one copy of the mutated gene from each parent to develop the disease. Carriers, who inherit only one copy, rarely develop the condition.
- Acquired or secondary hemochromatosis: This form results from other diseases or medical treatments.
The prognosis for hemochromatosis is good if it is detected early and treated appropriately. In such cases, patients do not experience a reduction in quality or life expectancy. However, if diagnosed after excess iron has accumulated in vital organs, it can lead to serious complications.
Symptoms
The symptoms of hemochromatosis, which typically appear between ages forty and sixty, vary depending on which organ is most affected. Some of the most common symptoms include:
- Fatigue
- General weakness
- Unintentional weight loss
- Joint pain
- Joint stiffness
- Abdominal pain
- Decreased libido
- Impotence
- Irregular menstrual cycles
- Early menopause
- Grayish or bronze skin tone
- Memory loss
Causes
The causes of the different types of hemochromatosis are as follows:
- Hereditary hemochromatosis: Caused by mutations in one of the genes responsible for regulating iron metabolism. The most common mutation involves the HFE gene, but sometimes it may result from alterations in TFR2 (transferrin receptor 2), HAMP (hepcidin gene), or SLC40A1 (ferroportin gene).
- Acquired hemochromatosis: This type can develop from the following medical conditions:
- Hemolytic anemia: Red blood cells are destroyed prematurely, releasing their iron content into the bloodstream.
- Hepatitis C: Iron metabolism becomes altered, increasing absorption.
- Alcoholic liver disease: Liver damage caused by alcohol leads to increased iron accumulation in the organ.
- Iron administration: Prolonged use of iron supplements may result in excessive iron levels in the body.
- Blood transfusions: Patients with chronic anemia who receive frequent transfusions accumulate large additional amounts of iron.
Risk Factors
The risk of developing hemochromatosis increases in the following situations:
- Family history
- Genetic predisposition: having two altered copies of the HFE gene
- Sex: symptoms tend to appear earlier in men, since menstruation helps eliminate significant amounts of iron regularly. Women who have undergone hysterectomy or are postmenopausal have a higher risk of developing symptoms.
Complications
Hemochromatosis can lead to severe diseases such as:
- Heart failure
- Arrhythmias
- Cardiomyopathy
- Liver cirrhosis
- Hepatocellular carcinoma (liver cancer)
- Diabetes mellitus
- Hypothyroidism
- Arthropathy
Prevention
Hemochromatosis cannot be prevented.
Which doctor treats hemochromatosis?
Hematology specialists are responsible for diagnosing and treating hemochromatosis. In severe cases, specialists in the affected organs may also be involved.
Diagnosis
Hemochromatosis is difficult to diagnose because it remains asymptomatic for a long time, and when symptoms appear, they are often nonspecific and common to other conditions. The first suspicions usually arise from abnormal results on tests performed for unrelated reasons.
The tests that help detect hemochromatosis include:
- Blood test: used to detect excess iron in the body
- Serum transferrin saturation: measures the amount of iron bound to the protein that transports iron in the blood.
- Serum ferritin: assesses iron levels stored in the liver through transferrin saturation.
- Genetic testing: recommended when excess iron is found in the blood to determine whether it is hereditary hemochromatosis.
- Liver biopsy: if no genetic cause is found, a liver tissue sample is taken and analyzed to assess iron deposits.
- Liver MRI: shows the distribution of iron deposits in the organ.
Treatment
Treatment for hemochromatosis focuses on regulating iron stores. This is achieved through periodic phlebotomies or bloodletting, which involve removing about 500 milliliters of blood weekly or biweekly. This approach reduces the risk of damage to vital organs but does not cure the disease or reverse existing complications.
To lower the risk of cirrhosis, patients should avoid alcohol consumption, as it increases iron absorption.
Patients with conditions resulting from hemochromatosis should receive specific treatment for those complications.
