Evaluation of clinical and laboratory findings and treatment results of patients with paroxysmal nocturnal hemoglobinuria whom we follow at Dicle University Faculty of Medicine

Paroxysmal Nocturnal Hemoglobinuria (PNH), is a rare hematopoietic clonal stem cell disease. It is a condition characterized by clonal, complement-related hemolysis that occurs as a result of a somatic mutation in the hematopoietic stem cell. It is a chronic and progressive disease that may have subtle symptoms such as fatigue, abdominal pain, and difficulty swallowing, and whose onset and course are variable. It has high morbidity and mortality. PNH should be screened in aplastic anemia and myelodysplastic syndrome patients with bone marrow aplasia or hypoplasia. Additionally, PNH testing is performed in Coombs-negative hemolytic anemias, in patients with unexplained cytopenia accompanied by elevated LDH or intravascular hemolysis, in young patients with unexplained thrombosis, or in patients who develop thrombosis in unusual areas (such as intra-abdominal veins, cerebral veins, dermal veins), especially if there are concurrent signs of hemolysis. should be considered. Flow cytometry has an important place in the diagnosis and follow-up of the disease. In this study, 15 patients diagnosed at Dicle University Faculty of Medicine Hospital were evaluated retrospectively. The diagnosis was confirmed by flow cytometry in all patients. The aim of this study is to evaluate the relationship between the data obtained from our patients by flow cytometry method and the clinical course of the disease and laboratory findings during follow-up. The aim is to identify risky patient groups in the society and to investigate PNH disease especially in these groups. In addition, our study aims to show the effect of PNH clone size on laboratory tests and clinical findings related to the disease and to evaluate the effect and adequacy of the treatment given. The average age of the 15 patients included in our study is 38.3 years and is compatible with the literature. 7 of the patients are female and 8 are male (female: 46.6%, male 53.4%), which is compatible with the literature. 2 of the 15 patients included in our study are not receiving treatment. 1 patient died. In our study, 10 patients receive Eculizumab treatment and 1 patient receives Ravulizumab treatment. These patients have a clinical response with treatment and there is a significant improvement in their quality of life. One patient used Eculizumab safely during pregnancy and no complications were observed for her or her baby after birth. 1 patient used Eculizumab safely during pregnancy, but she has not given birth yet. Clone follow-up of patients receiving treatment continues with 6-month intervals. Based on the experience we have gained from our patients and the literature, clone follow-up of patients with small clone sizes continues at 6-month intervals. We evaluated that hemoglobinuria, a sign of intravascular hemolysis, parallels increasing clone size. It was observed that findings other than hemoglobinuria (abdominal pain, jaundice, weakness, easy bleeding findings) were not related to clone size. According to the response evaluation, 6 of 11 patients receiving treatment were evaluated as complete response, 2 as major response, and 3 as partial response. In 5 of 11 patients receiving treatment, it was observed that the PNH clone size decreased to between 10-50%, while it was above 50%. While the clone size of 3 patients was above 50%, although there was a significant decrease in clone size, it could not fall below 50%. The clone size of 3 patient also remained constant between 10-50%. Our study showed the importance of close follow-up and that the frequency of testing clinical findings should be carefully adjusted, taking into account the patient's clinic. As a result, our study is not yet sufficient in number. Larger-scale and multicenter studies that include more patients are needed to determine the frequency of the disease and identify risk groups.