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What is hemochromatosis? What are the symptoms of hemochromatosis? What diagnostic test should be performed? How is haemochromatosis diagnosed? The questions are answered by the drug. Anna Mitschke.
What diagnostic tests should be performed to diagnose haemochromatosis?
Hello and welcome. I am a woman, I am 42 years old. Haemochromatosis has occurred in my family. Problems related to much increased iron absorption my grandmother had amongst others. I know that this disease may have a genetic background, so far it has not been detected in me, but I am afraid that it will not change. It was at the same age as mine that this disease was diagnosed in my grandmother.
So I would like to ask how is hemochromatosis diagnosed? I know that, as with many other diseases, early detection is very important, but I have no idea how to recognize the first symptoms. Are there any characteristic symptoms that would indicate that I may start to develop haemochromatosis and should I see a doctor?
Or maybe a better solution is to perform some preventive examinations, during which I will be able to check regularly whether the disease is developing? In this situation, is a simple iron test sufficient? Thank you in advance for your answer.
The doctor suggests which diagnostic tests should be performed in the case of haemochromatosis
Hemochromatosis is an induced disease build-up of excess iron in the body.
There is a hereditary form, secondary iron overload syndromes and other rarer causes, e.g. infantile iron overload. The essence of the disease as it is hereditary hemochromatosis is based on overabsorption of iron from the gastrointestinal tract. As a result, it comes to iron overload of tissues. The cause is believed to be mutations in the gene responsible for the synthesis of iron transporting proteins.
Typically the patient is a middle-aged man. In women, the disease usually appears later after the menopause. Initially, it is asymptomatic. Early symptoms that can be seen are joint pain (especially in the hands and wrist), weakness, and decreased libido. Later symptoms include chronic inflammation, cirrhosis of the liver with jaundice, ascites, and portal hypertension.
Haemochromatosis can be symptomatic of cardiac damage, hypopituitarism, hypothyroidism, pancreatic damage and thus diabetes. Iron accumulating in the skin causes its increased pigmentation. It is extremely important to diagnose the disease early, which will enable effective treatment and avoid the development of serious complications.
In the event of symptoms, you should immediately contact your GP, who will decide on further diagnostics or refer you to a hospital. The indication for diagnostics is the presence of the disease in the family (in parents, grandparents, siblings, children). Blood iron and ferritin tests may be used to rule out but not confirm a disease.
Genetic tests are performed in 1st degree relatives to diagnose the disease. The diagnosis is confirmed by a transferrin saturation above 45%. Transferrin is an iron transport protein. The mainstay of treatment of haemochromatosis is blood depletion initially every 1-2 weeks, which allows the removal of excess iron in the blood.
— Lek. Anna Mitchke
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