Which are the symptoms of HFE hereditary haemochromatosis?

Symptoms of HFE Hereditary Haemochromatosis

HFE hereditary haemochromatosis is a genetic disorder characterized by excessive absorption and accumulation of iron in the body. This condition is primarily caused by mutations in the HFE gene, which regulates iron absorption from the diet. As iron levels build up over time, it can lead to various symptoms and complications. It is important to note that not everyone with HFE mutations will develop symptoms, and the severity of symptoms can vary widely among individuals.

Early Symptoms

In the early stages of HFE hereditary haemochromatosis, individuals may not experience any noticeable symptoms. However, as iron levels gradually increase, some common early signs may include:

• Fatigue: Feeling excessively tired or lacking energy is a common symptom of HFE hereditary haemochromatosis. It can be attributed to the body's struggle to process and store excess iron.


• Joint pain: Many individuals with HFE hereditary haemochromatosis experience joint pain, particularly in the hands, wrists, and knees. This pain can be chronic and may worsen over time.


• Abdominal pain: Some people may experience abdominal discomfort, often in the upper right quadrant, due to iron accumulation in the liver.


• Weakness: Generalized weakness or muscle weakness can occur as a result of iron overload affecting various bodily functions.


• Weight loss: Unintentional weight loss may occur in some individuals with HFE hereditary haemochromatosis, often due to associated symptoms like loss of appetite or abdominal pain.


• Changes in skin color: A bronze or grayish hue to the skin, commonly referred to as "bronze diabetes," can be a characteristic sign of iron overload.

Advanced Symptoms

If left untreated, HFE hereditary haemochromatosis can progress to more severe symptoms and complications. These may include:

• Organ damage: Excess iron can accumulate in various organs, including the liver, heart, pancreas, and endocrine glands. Over time, this can lead to organ damage and dysfunction.


• Liver disease: Iron overload in the liver can cause inflammation, leading to conditions such as hepatitis, cirrhosis, or even liver cancer.


• Diabetes: HFE hereditary haemochromatosis is associated with an increased risk of developing diabetes. Iron deposition in the pancreas can impair insulin production and lead to insulin resistance.


• Heart problems: Iron accumulation in the heart can disrupt its normal functioning, potentially leading to heart failure, irregular heart rhythms, or cardiomyopathy.


• Sexual dysfunction: In men, HFE hereditary haemochromatosis can cause erectile dysfunction, loss of libido, or testicular atrophy. Women may experience irregular menstrual cycles or early menopause.


• Arthritis: Joint pain and inflammation can progress to arthritis, causing stiffness, swelling, and limited mobility.


• Impaired thyroid function: Iron overload can affect the thyroid gland, leading to hypothyroidism and its associated symptoms, such as fatigue, weight gain, and depression.


• Cardiopulmonary complications: In rare cases, iron accumulation in the lungs can result in pulmonary hypertension or restrictive lung disease.

Screening and Diagnosis

Given the potential complications of HFE hereditary haemochromatosis, early detection is crucial. Screening for this condition typically involves blood tests to measure iron levels, transferrin saturation, and ferritin levels. Genetic testing can confirm the presence of HFE gene mutations.

Treatment and Management

Once diagnosed, treatment for HFE hereditary haemochromatosis aims to reduce iron levels in the body and prevent further complications. The most common approach is therapeutic phlebotomy, which involves regular blood removal to lower iron stores. In some cases, iron chelation therapy may be necessary to remove excess iron.

Additionally, individuals with HFE hereditary haemochromatosis should make dietary modifications to limit iron intake. This may involve avoiding iron-rich foods, such as red meat and iron-fortified products, and reducing vitamin C supplementation, as it enhances iron absorption.

Regular monitoring of iron levels and organ function is essential to manage HFE hereditary haemochromatosis effectively. Genetic counseling is also recommended for individuals and families affected by this condition.