Introduction. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal disease of the blood system characterized by intravascular hemolysis, bone marrow dysfunction and an increased risk of thrombotic and organ complications.Aim — to provide relevant clinical recommendations for the provision of medical care to adults and children with PNH.Basic information. Experts from the National Hematological Society association which is focused on the promotion of hematology, transfusiology and bone marrow transplantation along with experts from the public organization, National Society of Pediatric Hematologists and Oncologists, have developed current clinical recommendations for providing medical care to adults and children with PNH. The recommendations address in detail the issues of etiology, pathogenesis, epidemiology, and clinical manifestations of the disease. Special attention is paid to the diagnosis, differential diagnosis, and treatment of PNH based on the principles of evidence.

/pdf/clinical-guidelines-for-the-management-of-patients-with-3kb0wddf.pdf

Clinical guidelines for the management of patients with paroxysmal nocturnal hemoglobinuria

   Introduction. When establishing a diagnosis of thrombotic thrombocytopenic purpura (TTP) for the first time, other diseases occurring with thrombocytopenia may be misdiagnosed.   Aim: to analyze diagnostic difficulties and errors of TTP.   Materials and methods. In total, 54 patients (44 women and 10 men) aged 18 to 83 years (median 33 years), who were diagnosed TTP from 2019 to 2023, were included in the study. Anamnesis, baseline hemoglobin, platelets, erythrocytes, lactate dehydrogenase and bilirubin serum concentrations, pre-established diagnoses, treatment, and outcomes were analyzed.   Results. Initially TTP was suspected only in 19 (35 %) patients. In 12 out of 54 patients immune thrombocytopenia (ITP) was initially misdiagnosed. Fisher-Evans syndrome was initially suspected in 3 patients. In sporadic cases, myelodysplastic syndrome, systemic lupus erythematosus / antiphospholipid syndrome, autoimmune hemolytic anemia were initially suspected. Among 15 women with associated with pregnancy TTP in 8 (53.3 %), HELLP syndrome was initially misdiagnosed. In total, 12 (22.2 %) of 54 TTP patients died. In 11/12 non-survival patients, TTP treatment was never started, because the doctors were waiting for the ADAMTS13 test results. A case report of Sequential Immune Thrombocytopenia (ITP) and TTP in the same Patient is described.   Conclusion. When thrombocytopenia is combined with hemolysis and in the absence of multiple organ pathology, it is difficult to differentiate ITP and TTP without examining the plasma activity of ADAMTS113. With a combination of ITP and TTP in the same patient, the study of ADAMTS13 plasma activity makes it possible to identify the leading mechanism of thrombocytopenia and choose treatment tactics.

Immune thrombocytopenic purpura and thrombotic thrombocytopenic purpura — diagnostic difficulties and errors

Incidence, Clinical Characteristics and Outcome of Symptomatic Thromboembolic Events (TE) in 276 Patients with Paroxysmal Nocturnal Hemoglobinurea (PNH)

Introduction . Eculizumab inhibits the terminal steps of complement activation and is the standard treatment for paroxysmal nocturnal hemoglobinuria (PNH). Unstable complement inhibition causes “breakthrough” intravascular hemolysis and a suboptimal response to eculizumab therapy in some patients with PNH. Aim: to evaluate the stability of complement inhibition in eculizumab treatment by testing the kinetic parameters of complement activation. Materials and methods . The study included 12 PNH patients receiving long-term eculizumab therapy (median 54 months, range 4–66 months). The median age was 35 years (from 22 to 68 years), 92 % of patients were female. The median PNH clone size was 96  % of the granulocytes. The control group consisted of 12 healthy donors (age 25–60 years, women 75 %). Complement activation was evaluated immediately prior to the next eculizumab infusion, and then again after 5 and 10 days. Kinetic parameters (induction period, hemolysis rate, T50-the time required to achieve 50  % hemolysis) were recorded separately for the total complement activity and an alternative activation pathway using rabbit red blood cells (rRBC). Results . The parameters of complement activation directly before the next eculizumab administration corresponded to a marked inhibition of the overall activity of the system. The induction period was extended by 7 times compared to the control (median 180 vs 25 seconds, p < 0.0001), and the hemolysis rate was 28 times less (median 1.6 vs 45.1 × 106 rRBC/min, p < 0.0001). The T50 value exceeded the control value by 20 times (median 690 vs 35 seconds, p < 0.0001). The parameters of the alternative complement activation pathway were reduced by 2–3 times compared to the control. In one case, repeated tests revealed insuffi cient complement inhibition, which was associated with pharmacokinetic “breakthrough” hemolysis. The degree of further complement inhibition and the tendency to restore activity varied signifi cantly during dynamic testing on days 5 and 10 after eculizumab infusion. Conclusion . The results of this study demonstrate individual differences in the residual activity of complement in PNH patients receiving long-term eculizumab therapy. Testing of complement activity is necessary with a suboptimal response to eculizumab therapy and when considering therapy correction. Kinetic registration of residual complement-dependent lysis of rabbit red blood cells demonstrates a higher sensitivity than the traditional CH50 study. Conflict of interest: the authors declare no conflict of interest. Financial disclosure: the study had no sponsorship.

/pdf/kineticheskie-parametry-aktivatsii-komplementa-u-bolnykh-246upvverq.pdf

Кинетические параметры активации комплемента у больных пароксизмальной ночной гемоглобинурией при лечении экулизумабом

To show the features of the clinical picture of this orphan disease and demonstrate the effectiveness of a long-term pathogenetic treatment of this disease using the case history of a patient with paroxysmal nocturnal hemoglobinuria (PNH) as an example. Complaints, anamnesis, physical status, as well as laboratory and instrumental studies used for a patient with PNH were presented. Modern literature data on the diagnosis and treatment of PNH have been studied. 
Complaints, anamnesis, physical status as well as laboratory and instrumental studies used for PNH patient were analyzed in comparison with the world literature data on this pathology. 
A conclusion was made regarding the need for a wide coverage of the clinical picture and diagnosis of PNH. The effectiveness of a long-term (for 13 years) pathogenetic treatment of the classical form of PNH with eculizumab was shown.

/pdf/difficulty-of-diagnostics-and-efficiency-of-pathogenetic-1qoxlmom.pdf

Difficulty of diagnostics and efficiency of pathogenetic therapy of paroxysmal nocturnal hemoglobinuria (clinical case)

Background. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal hematopoietic stem cell disorder, characterized by intravascular hemolysis, cytopenia and thrombosis. Diagnostic errors with delayed diagnosis of PNH are often due to the variety of the clinical presentation and the lack of awareness of the doctors of this rare disease. Aim. The aim of the study was to characterize the spectrum of clinical manifestations and the complexity of diagnosis of classical PNH. Materials & Methods. The study included 150 patients with classical PNH. The inclusion criteria were: 1) clinical and laboratory signs of intravascular hemolysis; 2) verifi cation of the diagnosis using standard fl ow cytometry; 3) absence of aplastic anemia, myelodysplastic syndrome and primary myelofi brosis. Results. The study population consisted of 89 (59 %) women and 61 (41 %) men. Median age was 34 years (13–72 years). The time before the diagnosis ranged from 0 to 455 months (median 33 months). The median size of the PNH clone among granulocytes and erythrocytes was 95 % and 41 %, respectively. The median of the lactate dehydrogenase was 7.2 times the upper limit of normal (ULN). Cytopenia occurred in 65 % of patients, including a combination of thrombocytopenia and neutropenia in 29 % of cases. Weakness and fatigue (99 %), hemoglobinuria (57 %), pain (52 %), icterus (46 %), dysphagia (37 %) and infection/fever (23 %) were the most common symptoms on the onset of the disease. Before the diagnosis of PNH, thrombosis or acute kidney injury was found in 22 % and 12 % of patients, respectively. Only 22 % of patients were initially diagnosed with PNH. In the remaining patients, the primary diagnosis was incorrect. Conclusion. The clinical manifestation of PNH is characterised by the presence of hemoglobinuria, cytopenia and early thrombosis in 57 %, 65 % and 22 % of patients, respectively. Errors of the primary diagnosis reach 78 % and lead to 334 А.Д. Кулагин и др. КЛИНИЧЕСКАЯ ОНКОГЕМАТОЛОГИЯ Заключение. Клиническая манифестация классической ПНГ характеризуется наличием гемоглобинурии, цитопении и ранних тромбозов у 57, 65 и 22 % пациентов соответственно. Ошибки первичного диагноза достигают 78  % и приводят к неадекватному предшествующему лечению. Результаты исследования подчеркивают необходимость мультидисциплинарного взаимодействия и строгого соблюдения алгоритмов диагностики классической ПНГ в группах риска, согласно современным рекомендациям. Ключевые слова: классическая пароксизмальная ночная гемоглобинурия, клон ПНГ, цитопения, клиническая манифестация, ошибки диагностики. Получено: 20 февраля 2017 г. Принято в печать: 8 мая 2017 г. Для переписки: Александр Дмитриевич Кулагин, д-р мед. наук, проф., ул. Льва Толстого, д. 6/8, Санкт-Петербург, Российская Федерация, 197022; тел.: +7(812)338-62-36; e-mail: kulagingem@rambler.ru Для цитирования: Кулагин А.Д., Климова О.У., Добронравов А.В. и др. Клиническая манифестация и ошибки диагностики классической пароксизмальной ночной гемоглобинурии: анализ 150 наблюдений. Клиническая онкогематология. 2017;10(3):333–41. DOI: 10.21320/2500-2139-2017-10-3-333-341

/pdf/clinical-manifestation-and-errors-in-the-diagnosis-of-23t7fdewsf.pdf

Clinical Manifestation and Errors in the Diagnosis of Classical Paroxysmal Nocturnal Hemoglobinuria: A clinical case series of 150 patients

Background: Background: Myeloproliferative neoplasms(MPNs) are a group of disorders with heterogeneous features and often progressive clinical course. Over the past few years a remarkable advance has been made in the knowledge on the pathogenesis and therapeutic management of the Philadelphia(Ph)-negative MPNs. Despite the wide variety of studies in this field, there are still unsolved issues regarding their biology, disease course, prognosis and treatment. The improved recognition of molecular markers is not sufficient for a comprehensive explanation of the variable clinical symptoms and complications among these patients. The role of the chronic inflammation has been widely considered as a co-factor, involved in the pathogenesis and progression of MPNs. Aims: Aims: To analyze the serum levels of a panel of cytokines, associated with the mechanisms of chronic inflammation, among patients with Ph-negative MPNs and healthy controls and the possible correlations of these cytokines with the disease’s features. Methods: Methods: One hundred and fifty adults were included in the study, distributed in comparable groups, as follows: 36 patients with Essential thrombocytemia (ET), 49 patients with Polycythemia vera

P1064: circulating cytokine levels in patients with philadelphia-negative myeloproliferative neoplasms – profile and clinical correlations – a single center study

Background: Patients with Philadelphia-negative myeloproliferative neoplasms (MPNs), including myelofibrosis (MF), polycythemia vera (PV) and essential thrombocythemia (ET), experience troublesome symptoms leading to impaired functioning (physical and psychosocial) and quality of life (QoL). Understanding symptom burden, QoL and unmet patient needs across disease subgroups is of value to aid optimal treatment and rehabilitation decision-making for patients with different MPNs. It is also worthy to explore perceptions on the impact of the disease and its treatment among MPN patients and hematologists to ensure patient-centered care. Aims: The national survey MPN-QoL-2020 was aimed to evaluate QoL and symptom burden in patients with MPN, as well as to examine the perceptions of patients and physicians about the impact of MPN and its treatment in a real world setting in Russia. Methods: A survey of patients with MPN and their treating physicians was conducted from September to December 2020. This survey included in- or out-patients aged ≥18 years with a confirmed diagnosis of MF, PV, or ET. All the patients completed the HM-PRO, a hematological malignancy (HM) specific patient-reported outcomes (PRO) measure, the MPN10 symptom assessment tool, and a patient’s survey checklist. The HM-PRO consists of two scales: Part A measuring the ‘impact on patients’ QoL’; Part B measuring ‘signs and symptoms’ experienced by the patients. Part A has 4 domains: physical behaviour (PB), social well-being (SW), emotional behaviour (EB) and eating and drinking habits (ED). Physicians completed a physician’s survey checklist which included a record for each patient. Both paper and electronic versions of the survey forms were available. ANOVA and χ2 test were applied to examine the differences between groups. Results: 1100 patients with MPNs (MF, n=355, PV, n= 408 and ET, n=337; mean age = 58±14 yrs; female = 61%) and 100 hematologists (mean age = 42±12 yrs, female = 85%) from 37 medical centers completed the survey. The HM-PRO Parts A & B total scores were significantly worse (higher scores) in MF and PV patients than in ET (Table 1). Impact on PB and EB was higher in MF and PV as compared to ET: PB = 28.6 and 21.4 vs 14.3; EB = 31.8 and 27.3 vs 22.7, respectively. Impact on ED was higher in MF as compared to PV and ET. SF was less impaired and similar across different MPNs. Among MF there were more patients with moderate/large effect on QoL as compared to PV and ET – 40% vs 34% and 28% (p=0.003). The vast majority of MPN patients experienced symptoms (95%); more than 80% had fatigue and inactivity. The MPN10 Total Symptom Score was the highest in MF, intermediate in PV and the lowest in ET: 24 vs 20 vs 14 (p<0.001). Notably, 29% MF, 34% PV and 44% ET patients did not attribute their symptoms to MPN. Physicians and patients had a discordant perspective of the most bothersome symptoms. There was agreement between MF patients and their physicians about the impact of the disease on QoL and symptom burden. For PV and ET, physicians underestimated patient’s concerns; the discrepancies were pronounced for QoL impact (PV, p=0.028; ET, p<0.001) and symptom burden (PV, p=0.018; ET, p<0.001). Across MPNs, 41.5% MF, 37.8% PV and 35.2% ET agreed that there were areas of patient-physician relationship needed to be improved. Image:Summary/Conclusion: The findings of this nationwide survey demonstrate differences in the impact on QoL and symptom burden across MPNs, identify the areas of different perspective between patients and physicians about MPN and its treatment as well as highlight the unmet needs among patients with MPN. 

P1724: quality of life and unmet needs among ph-negative myeloproliferative neoplasm patients: results of the nationwide survey

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Clinical Manifestation and Errors in the Diagnosis of Classical Paroxysmal Nocturnal Hemoglobinuria: A clinical case series of 150 patients

P1064: circulating cytokine levels in patients with philadelphia-negative myeloproliferative neoplasms – profile and clinical correlations – a single center study

P1724: quality of life and unmet needs among ph-negative myeloproliferative neoplasm patients: results of the nationwide survey