Paroxysmal nocturnal hemoglobinuria, also known as PNH, is a rare disease of genetic origin, characterized by alterations in the membrane of red blood cells, leading to its destruction and elimination of components of red blood cells in the urine, thus being considered a chronic hemolytic anemia.
The term nocturne refers to the period of the day when the highest rate of red blood cell destruction was observed in people with the disease, but investigations have shown that hemolysis, that is, the destruction of red blood cells, occurs at any time of the day in people who have the disease. hemoglobinuria.
PNH has no cure, however the treatment can be done through bone marrow transplantation and the use of Eculizumab, which is the specific medication for the treatment of this disease. Learn more about Eculizumab.
Main symptoms
The main symptoms of nocturnal paroxysmal hemoglobinuria are:
- First very dark urine, due to the high concentration of red blood cells in the urine;
- Weakness;
- Somnolence;
- Weak hair and nails;
- Slowness;
- Muscle pain;
- Frequent infections;
- Feeling sick;
- Abdominal pain;
- Jaundice;
- Male erectile dysfunction;
- Decreased kidney function.
People with paroxysmal nocturnal hemoglobinuria have an increased chance of thrombosis due to changes in the blood clotting process.
How the diagnosis is made
The diagnosis of paroxysmal nocturnal hemoglobinuria is made by means of several tests, such as:
- Blood count, which in people with PNH is indicated pancytopenia, which corresponds to the decrease of all blood components - know how to interpret the blood count;
- Dosage of free bilirubin, which is increased;
- Identification and dosage, by means of flow cytometry, of the antigens CD55 and CD59, which are proteins present in the membrane of red blood cells and, in the case of hemoglobinuria, are reduced or absent.
In addition to these tests, the hematologist may request complementary tests, such as the sucrose test and the HAM test, which assist in the diagnosis of nocturnal paroxysmal hemoglobinuria. Usually the diagnosis occurs between 40 and 50 years and the person's survival is around 10 to 15 years.
How to treat
The treatment of paroxysmal nocturnal hemoglobinuria can be done with the transplantation of allogeneic hematopoietic stem cells and with the drug Eculizumab (Soliris) 300mg every 15 days. This medication can be provided by SUS through legal action.
Iron supplementation with folic acid is also recommended, in addition to adequate nutritional and haematological monitoring.
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