Hemochromatosis

What is hemochromatosis?

Hemochromatosis is a genetic iron storage disease in which the body absorbs excessive amounts of iron from the diet. Excess iron is generally metabolized and excreted from the body, but in hemochromatosis, excess iron is deposited in the liver, pancreas, heart, endocrine glands and joints.

Who gets hemochromatosis?

What is the cause of hemochromatosis?

Hemochromatosis is caused by mutations in the HFE gene with autosomal recessive heritage. Two mutations identified in the HFE gene are C282Y and H63D. Hemochromatosis is the most common inherited single-gene disorder in whites, with one in ten people carrying an abnormal gene.

• For an individual to have hemochromatosis, they must have inherited a faulty gene from each parent.
• A person who has a faulty gene and a normal gene is a carrier and you will lead a perfectly healthy life. However, the carrier can pass the defective gene on to a son or daughter.
• Up to half of all patients with delayed cutaneous porphyria carry at least one HFE gene mutation and this may contribute to the increased iron stores in the liver seen in these patients.

What are the signs and symptoms of hemochromatosis?

The four main characteristics that characterize hemochromatosis are:

• Cirrhosis liver
• Mellitus diabetes
• Increased skin pigmentation
• Heart failure.

How does hemochromatosis affect the skin?

• Increased pigmentation affects more than 90% of patients.
• Skin pigmentation is often one of the first signs of the disease and can precede the other features by many years.
• Hyperpigmentation it is more evident in the sunexposed skin, particularly on the face.
• The color of the skin can be slate gray or brownish bronze.
• Ichthyosis-like changes (climbing)
• Skin thinning
• Partial loss of the body. hair; The pubic region is the most affected.
• Coilonychia (spoon-shaped thinned nail), usually of the thumb and index and middle fingers
• Hemochromatosis may be associated with delayed cutaneous porphyria disease (PCT). PCT can cause fragility and blisters on the skin, especially on the back of the hands.

How does hemochromatosis affect other organs of the body?

• The enlarged liver occurs in more than 95% of patients and is often accompanied by chronic liver disease (cirrhosis) and liver failure.
• Diabetes mellitus, which often requires insulin therapy, observed in 30-60% of patients.
• Cardiomyopathy (heart muscle disease)
• waste of sex impulse, impotence in men, absent or irregular menstrual periods and early menopause in women
• Arthritis, commonly at the knuckle and the first joint of the first two fingers
• General symptoms including chronic fatigue, weakness, lethargy, and listlessness.

Hemochromatosis patients may develop one or more of the above symptoms over a period of time as iron slowly accumulates and deposits in the organs. Often the disease is not diagnosed until routine blood tests show elevated levels of iron in the blood. Patients often seek help due to tiredness, abdominal discomfort, joint and general pain. discomfort experienced over an extended period of time.

How is the diagnosis of hemochromatosis made?

Several tests can be done to confirm the diagnosis of hemochromatosis.

• Laboratory studies show elevated levels of iron in the blood and body stores. serum iron concentrations higher than 150 mcg / dL and serum ferritin levels> 500 ng / ml.
• 92% in hemochromatosis patients has a higher transferrin saturation than 62%.
• X-rays may show an enlarged heart, and blood tests may show liver disease or diabetes, increased blood vessels in the lungs and restrictive cardiomyopathy in echocardiograms.
• Genetic tests for C282Y and H63D mutations are widely available. These tests can be performed to confirm the diagnosis or as a screening mechanism for the early detection of individuals at risk.

What is the treatment for hemochromatosis?

Hemochromatosis treatment consists of regular blood collection. and it's similar to making a blood donation (venesection therapy or phlebotomy). Each ml extracted contains 0.5 g of iron. Depending on the amount of iron overload, the procedure can be done initially once a week or once a month. This regularity of treatment continues until serum ferritin levels return to normal; This can take up to 2 years or more. After this, lifelong maintenance therapy should be established as excess iron continues to be absorbed. On average, a venesection is required every 3–4 months to prevent accumulation and maintain healthy levels. Regular monitoring of serum ferritin, transferrin saturation, hematocrit and hemoglobin It is necessary throughout the treatment process.

It is essential to detect hemochromatosis as soon as possible so that a venesection can be instituted to prevent iron accumulation and possible complications. Once complications such as diabetes and cirrhosis have developed, they cannot be reversed. Tiredness and abdominal pain should decrease, and the increase in skin pigmentation should disappear over time once treatment has started. However, arthritis may not improve with venesection.

Hemochromatosis cannot be treated with a low iron diet. However, some foods affect the way iron is absorbed by the body. The following dietary tips may play a small role in reducing the symptoms of the disease.

• Minimize alcohol intake, particularly with meals: alcohol can lead to increased absorption of iron and increase the risk of liver disease.
• Avoid eating offal (liver, kidney, etc.) and red meat: the iron absorption of red meat is 20 to 30% compared to 1 to 20% for vegetables and grains.
• Avoid vitamin supplements or tonics that contain iron or vitamin C: Vitamin C increases the absorption of iron from the diet.