what it is, causes, symptoms and treatments

There is a protein, inside the red blood cells. It is formed from globin bound to an iron-containing non-protein group called heme. The result of this “union” is the natural oxygen carrier which is loaded into the lungs and, through the circulation, is transported and distributed to all the cells of the body. When you are anemic, your hemoglobin drops.

But there are very rare forms of pathology that interest precisely hemoglobin. One of them is paroxysmal nocturnal hemoglobinuria or Epn. Research offers new treatment options for this disease, which must first be recognized early.

Pay attention to the color of your urine

Paroxysmal nocturnal hemoglobinuria is a very rare disease that affects about 2-5 people per million inhabitants. “It is a bone marrow disease, the organ in which all blood cells are produced, and is caused by a random, non-hereditary mutation, which causes the stem cells to produce “defective” red blood cells, white blood cells and platelets – explains Simona Sica, Director of UOC Hematology and Stem cell transplant, Agostino Gemelli University Hospital Foundation IRCCS UCSC of Rome. It can sometimes develop as a result of a bone marrow disease called bone marrow aplasia or aplastic anemia, in which both red blood cells (anemia) and white blood cells (leukopenia) and platelets (thrombocytopenia) are decreased.

In other patients, aplasia may appear later in the history of the disease. The “defective” red blood cells become sensitive to complement, a mechanism of the immune system, and activate a series of proteins. Defective red blood cells are weak and unable to defend themselves from complement, which therefore destroys them, causing hemoglobin to escape inside them ”.

The result of this situation is that it exists a common symptom under these conditions, which must be investigated: it is the dark color of the urine linked to hemolysis that is active even when the signs are not evident, that is, between a hemoglobinuric crisis and another.

“In addition to the color of the urine, in most cases the classic Epn manifests itself with the symptoms of anemia (lack of red blood cells): paleness, fatigue, breathlessness and palpitations – the expert reports. You may experience abdominal pain and difficulty swallowing solid and even liquid foods. Man may have difficulty in sexual intercourse (erectile dysfunction). Other possible symptoms are those secondary to thrombosis, which are different depending on which part of the body is affected. The disease is very variable and due to this variability its symptoms are more or less evident, and can change over time. But even if the clinical manifestations are fleeting or paroxysmal, the pathological mechanism continues to work in the background “.

The most serious complication is thrombosis, which is the formation of clots inside the blood vessels, especially the veins. In addition, very severe hemoglobinuric crises increase the risk of kidney damage.

How to recognize the situation

As mentioned, the diagnosis is often late even if it is enough a simple urinalysis to detect the presence of hemoglobin. “A simple one blood sample it can also allow the identification of abnormal red and white blood cells with a technique known as flow cytometry – concludes the Sica. However, this test is only done in centers that specialize in hematology. At the onset of the disease, a bone marrow examination is often conducted to check for bone marrow aplasia or hypoplasia ”.

Once the diagnosis is made, it is then necessary to think about the patients, with specific treatments and an eye to the quality of life, which depends on the symptoms that the disease causes.

“Patients who develop significant anemia, for example, are dependent on transfusions and therefore the disease has a significant impact on daily life. These are weakened patients whose stress also increases the risk of thrombosis. In patients with a previous blood disorder, bleeding or infection may occur. It is therefore clear that the disease represents a heavy burden for both patients and carers ”. In conclusion, we remind you that in 10-15% of cases there can be a spontaneous improvement: spontaneous healing can also occur in patients with severe disease, but after many years “.

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