Primary hemochromatosis – symptoms, treatment, prognosis

Hemochromatosis is a rare, inherited disorder of iron metabolism in the body that can lead to serious health complications.

In this article, we will discuss what hemochromatosis is, its symptoms, treatment options and its prognosis.

What is hemochromatosis?

Hemochromatosis is a disease involving excessive accumulation of iron in the body. Most often, it is the result of impaired regulation of the level of iron absorbed from food. Over time, excess iron accumulates in tissues and organs such as the liver, pancreas, heart, joints and skin, which can lead to serious damage.

Inheritance of hemochromatosis

Hemochromatosis is an inherited condition that can be passed down from generation to generation. It is most often inherited in an autosomal recessive manner, which means that two copies of the defective gene, one from the mother and one from the father, are needed to develop the disease. People who inherited only one defective copy of the gene may be carriers, but do not have to manifest symptoms of the disease.

Hemochromatosis – prognosis

The prognosis for hemochromatosis depends on the time in which the disease is diagnosed and treatment begins. Early diagnosis and effective treatment can significantly improve the patient’s prognosis. If hemochromatosis is not recognized and treated on time, it can lead to serious complications such as liver cirrhosis, diabetes, heart disease and joint damage.

Hemochromatosis – symptoms

The symptoms of hemochromatosis may vary and are not always clear, which makes it difficult to recognize. The most common symptoms include fatigue, weakness, joint pain, liver disorders, skin lesions, as well as iron metabolism disorders, such as excessive thirst or dark urine. These symptoms may worsen as the disease progresses.

Hemochromatosis – diagnosis

Diagnostics of hemochromatosis involves laboratory tests that allow to assess the level of iron in the blood and indicators related to its metabolism in the body. Genetic testing is also important to confirm the inheritance of the disease. Based on the test results, the doctor can make a diagnosis and determine appropriate treatment.

Hemochromatosis – treatment

Treatment for hemochromatosis involves regular blood sampling to reduce iron levels in the body. This is a procedure known as phlebotomy. If the disease is already advanced or complications occur, symptomatic treatment, such as painkillers or treatment of comorbidities, may also be necessary.

Hemochromatosis – diet

Diet plays an important role in managing hemochromatosis. People suffering from this disease should avoid eating foods rich in iron, such as red meat or foods high in iron. It is also recommended to avoid iron supplements and alcohol, which may increase iron absorption.

Your suggestions

If you suspect that you or a family member has hemochromatosis, consult your doctor immediately. Early diagnosis and treatment are key to improving prognosis and preventing complications. Regular check-ups can also help monitor your iron levels and health.

Recommended articles

If you want to learn more about hemochromatosis and its treatment and diagnosis, we recommend that you read other articles on this topic available in the medical literature and on the websites of specialized health institutions.