Paroxysmal Nocturnal Hemoglobinuria (PNH)
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disease characterized by intravascular hemolysis and hemoglobinuria. Leukopenia, thrombocytopenia, arterial and venous thromboses, as well as episodic crises are common. Flow cytometry is used to verify the diagnosis. Treatment is supportive, with eculizumab, a terminal complement inhibitor. The cause of paroxysmal nocturnal hemoglobinuria is a non-malignant somatic mutation in the X-linked class A phosphatidylinositolglycan (PIGA) gene in self renewable hematopoietic stem cells. There are three main clinical syndromes in PNG: hemolytic, thrombotic, cytopenic. Each patient can have one, two, or all three syndromes.
Symptoms of the disease
If you notice the following symptoms, you should see your doctor immediately:
- Muscle weakness;
- Pale skin;
- Hair loss and bone breakage;
- Feeling burning in the tongue;
- Menstrual cycle disturbance;
- Neurological disorders;
- Frequent colds.
A qualified specialist will conduct a diagnostic examination and, based on his data, will select the correct treatment regimen. It is worth remembering that in time, the discovered pathology is easier and faster to cure. Do not ignore the presence of dangerous symptoms, because the child may have a hypoxic coma.
Treatment of the disease
The Tel Aviv Medical Clinic has all the necessary special equipment for detailed diagnostics, which helps to develop a timely effective therapeutic regimen. The hematology department has unique capabilities, innovative developments for effective treatment of the disease. Blood violations cannot be considered an absolute sentence. They can be successfully fought, as demonstrated by experienced doctors of the Israeli clinic, with special attention to the patients.
Treatment can be divided into maintenance therapy, thrombosis prevention, immunosuppression, erythropoiesis stimulation, stem cell transplantation, and treatment with biological agents. Maintenance therapy includes transfusion of red blood cells, administration of folic acid, vitamin В12, and iron preparations. Most patients with the “classic” form of PNG depend on hemotrasfusions. Hemochromatosis, with damage to the heart and liver, in patients with PNG is rarely observed, since haemoglobin is filtered into the urine.