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Paroxysmal nocturnal hemoglobinuria

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https://www.readbyqxmd.com/read/28332730/multicenter-validation-of-a-simplified-method-for-paroxysmal-nocturnal-hemoglobinuria-screening
#1
Arianna Gatti, Luigi Del Vecchio, Massimo Geuna, Matteo G Della Porta, Bruno Brando
According to the most credited and validated international guidelines, testing peripheral blood for the diagnosis of PNH is best accomplished with four color, two tubes or five to six color, single tube flow cytometric (FCM) procedures, with the demonstration of the deficiency of at least two GPI-linked surface proteins in two different cell subsets to corroborate the diagnosis (1-7). Each one of these state-of-the-art techniques ensure a high degree of sensitivity (i.e. down to 0.01% PNH granulocyte or red cell clones) with a high level of standardization and good reproducibility...
March 23, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28328837/atypical-presentation-of-paroxysmal-nocturnal-hemoglobinuria-treated-by-eculizumab-a-case-report
#2
Anne Quinquenel, Quentin Maestraggi, Carinne Lecoq-Lafon, Peffault de Latour Régis, Alain Delmer, Amélie Servettaz
RATIONALE: Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant acquired hematopoietic stem cell disease, which can be revealed by hemolytic anemia, thromboembolism, or bonemarrow failure. Thrombosis can occur at any site, but coronary thrombosis is extremely rare. Controlled trials have demonstrated that eculizimab, an inhibitor of the terminal complement cascade, was able to reduce both hemolysis and thrombosis, but its efficacy in cases of PNH with coronary thrombosis is unknown...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28324773/haptoglobin-is-frequently-low-in-patients-with-myelofibrosis-clinical-relevance
#3
Paolo Strati, Lucia Masarova, Prithviraj Bose, Naval Daver, Naveen Pemmaraju, Srdan Verstovsek
A recent study, showing the absence of paroxysmal nocturnal hemoglobinuria clones in myelofibrosis, has reopened the debate around the role of decreased haptoglobin in this disease. We present here a large prospective analysis of the clinical significance of low haptoglobin in 152 patients with myelofibrosis. Low haptoglobin (<32mg/dL) was observed in 50 patients (33%). Decreased haptoglobin did not associate with low hemoglobin levels, positive Coombs test or abnormal liver function tests, suggesting it is not result of autoimmune hemolytic anemia or liver cirrhosis...
March 8, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28246555/management-of-thrombosis-in-paroxysmal-nocturnal-hemoglobinuria-a-clinician-s-guide
#4
REVIEW
Morag Griffin, Talha Munir
Paroxysmal nocturnal haemoglobinuria (PNH), an ultra-orphan disease with a prevalence of 15.9 per million in Europe, is a life-threatening disorder, characterized by haemolysis, bone marrow failure and thrombosis. Patients with PNH prior to the availability of eculizumab had a median survival of between 10 and 22 years, with thrombosis accounting for 22-67% of deaths. 29-44% of patients had at least one thrombosis. This paper provides a clinician's guide to the diagnosis, management and complications of PNH, with an emphasis on thrombosis...
March 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28215731/complementopathies
#5
REVIEW
Andrea C Baines, Robert A Brodsky
The complement system is an essential part of the innate immune system that requires careful regulation to ensure responses are appropriately directed against harmful pathogens, while preventing collateral damage to normal host cells and tissues. While deficiency in some components of the complement pathway is associated with increased susceptibility to certain infections, it has also become clear that inappropriate activation of complement is an important contributor to human disease. A number of hematologic disorders are driven by complement, and these disorders may be termed "complementopathies"...
February 6, 2017: Blood Reviews
https://www.readbyqxmd.com/read/28164595/differential-expression-of-cd52-cd14-and-hla-dr-on-cd4-monocytes-in-three-types-of-acquired-bone-marrow-failure-syndromes
#6
Yang Kai, Dai Yuanyuan, Guan Shihe, Mu Xuanxuan, Zhang Hao, Pan Ying, Wu Yuanyuan, Wang Aihua, Sun Beibei, TongYang, Zhou Tingdong
BACKGROUND: Aplastic anemia (AA), paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplastic syndrome (MDS) are the common spectrums of acquired bone marrow failure syndromes (BMFs). Accurate and timely diagnosis is a significant clinical challenge because of the overlapping features. The pathogenesis is not fully understood, but several studies have suggested that defective monocyte functions play an important role. We aimed to find whether the different expressions of CD52, CD14 and HLA-DR on CD4+ monocytes would be helpful in the preliminary diagnosis of acquired BMFs...
September 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28124080/serologic-response-to-meningococcal-vaccination-in-patients-with-paroxysmal-nocturnal-hemoglobinuria-pnh-chronically-treated-with-the-terminal-complement-inhibitor-eculizumab
#7
Ferras Alashkar, Colin Vance, Dörte Herich-Terhürne, Nicole Preising, Ulrich Dührsen, Alexander Röth
Eculizumab is indicated for the therapy of patients with symptomatic paroxysmal nocturnal hemoglobinuria (PNH). Due to inhibition of terminal complement cascade, patients on eculizumab are susceptible to Neisseria meningitidis infections. The two mainstays to reduce the risk of infection are vaccination and antibiotic prophylaxis. In this retrospective study, serologic response was analyzed after vaccination with a meningococcal vaccine in 23 PNH patients (median age 36 years; range 25 - 88 years; 15 males, 8 females) by measuring serum bactericidal assay (SBA) using rabbit complement (rSBA) titers against meningococcal serogroups A, C, W, and Y...
April 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28092989/therapeutic-complement-inhibition-a-promising-approach-for-treatment-of-neuroimmunological-diseases
#8
Kjara S Pilch, Peter J Spaeth, Nobuhiro Yuki, Benjamin R Wakerley
Autoimmunity is an important cause of disease both in the central and peripheral nervous systems. Aetiologies and clinical manifestations are complex and heterogeneous. Inappropriate control of complement activation at inappropriate sites has been recognized as a major determinant in several neurological conditions, including Guillain-Barré syndrome and neuromyelitis optica. In each case pathogenesis is thought to be associated with generation of autoantibodies which upon binding guide activation of the complement system to self-tissue...
March 6, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28045484/development-of-autologous-c5-vaccine-nanoparticles-to-reduce-intravascular-hemolysis-in-vivo
#9
Lingjun Zhang, Wen Qiu, Stephen Crooke, Yan Li, Areeba Abid, Bin Xu, M G Finn, Feng Lin
The complement system is emerging as a new target for treating many diseases. For example, Eculizumab, a humanized monoclonal antibody against complement component 5 (C5), has been approved for paroxysmal nocturnal hemoglobinuria (PNH) in which patient erythrocytes are lysed by complement. In this study, we developed vaccines to elicit autologous anti-C5 antibody production in mice for complement inhibition. Immunization of mice with a conservative C5 xenoprotein raised high titers of IgG's against the xenogenous C5, but these antibodies did not reduce C5 activity in the blood...
January 12, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28039017/development-of-pro-inflammatory-phenotype-in-monocytes-after-engulfing-hb-activated-platelets-in-hemolytic-disorders
#10
Rashi Singhal, Sheetal Chawla, Deepak K Rathore, Angika Bhasym, Gowtham K Annarapu, Vandana Sharma, Tulika Seth, Prasenjit Guchhait
Monocytes and macrophage combat infections and maintain homeostatic balance by engulfing microbes and apoptotic cells, and releasing inflammatory cytokines. Studies have described that these cells develop anti-inflammatory properties upon recycling the free-hemoglobin (Hb) in hemolytic conditions. While investigating the phenotype of monocytes in two hemolytic disorders-paroxysmal nocturnal hemoglobinuria (PNH) and sickle cell disease (SCD), we observed a high number of pro-inflammatory (CD14(+)CD16(hi)) monocytes in these patients...
December 28, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27994744/buried-hydrogen-bond-interactions-contribute-to-the-high-potency-of-complement-factor-d-inhibitors
#11
Chao-Yie Yang, James G Phillips, Jeanne A Stuckey, Longchuan Bai, Haiying Sun, James Delproposto, William Clay Brown, Krishnapriya Chinnaswamy
Aberrant activation of the complement system is associated with diseases, including paroxysmal nocturnal hemoglobinuria and age-related macular degeneration. Complement factor D is the rate-limiting enzyme for activating the alternative pathway in the complement system. Recent development led to a class of potent amide containing pyrrolidine derived factor D inhibitors. Here, we used biochemical enzymatic and biolayer interferometry assays to demonstrate that the amide group improves the inhibitor potency by more than 80-fold...
December 8, 2016: ACS Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/27936141/hbs-binding-to-gp1b%C3%AE-activates-platelets-in-sickle-cell-disease
#12
Gowtham K Annarapu, Rashi Singhal, Avinash Gupta, Sheetal Chawla, Harish Batra, Tulika Seth, Prasenjit Guchhait
Intravascular hemolysis increases the risk of thrombosis in hemolytic disorders. Our previous study showed that the binding of adult hemoglobin (HbA) to glycoprotein (GP) 1bα induced the activation of platelets. The elevated plasma Hb or platelet surface bound Hb positively correlated with platelet activation in patients with paroxysmal nocturnal hemoglobinuria (PNH). Furthermore, this study shows that the sickle Hb [HbS, occurs due to single nucleotide polymorphism at A>T of β-globin gene of Hb and causes sickle cell disease (SCD)] also bound to GP1bα and activated platelets in a concentration-dependent manner...
2016: PloS One
https://www.readbyqxmd.com/read/27913482/update-on-the-diagnosis-and-management-of-paroxysmal-nocturnal-hemoglobinuria
#13
Charles J Parker
Once suspected, the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) is straightforward when flow cytometric analysis of the peripheral blood reveals a population of glycosyl phosphatidylinositol anchor protein-deficient cells. But PNH is clinically heterogeneous, with some patients having a disease process characterized by florid intravascular, complement-mediated hemolysis, whereas in others, bone marrow failure dominates the clinical picture with modest or even no evidence of hemolysis observed. The clinical heterogeneity is due to the close, though incompletely understood, relationship between PNH and immune-mediated bone marrow failure, and that PNH is an acquired, nonmalignant clonal disease of the hematopoietic stem cells...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913467/transplantation-for-bone-marrow-failure-current-issues
#14
Régis Peffault de Latour
The preferred treatment of idiopathic aplastic anemia (AA) is allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen (HLA)-identical sibling donor. Transplantation from a well-matched unrelated donor (MUD) may be considered for patients without a sibling donor after failure of immunosuppressive therapy, as may alternative transplantation (mismatched, cord blood or haplo-identical HSCT) for patients without a MUD. HSCT may also be contemplated for congenital disorders in cases of pancytopenia or severe isolated cytopenia...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27903532/acquired-somatic-mutations-in-pnh-reveal-long-term-maintenance-of-adaptive-nk-cells-independent-from-hspc
#15
Marcus A F Corat, Heinrich Schlums, Chuanfeng Wu, Jakob Theorell, Diego A Espinoza, Stephanie E Sellers, Danielle M Townsley, Neal S Young, Yenan T Bryceson, Cynthia E Dunbar, Thomas Winkler
Natural killer (NK) cells have long been considered short-lived effectors of innate immunity. However, recent animal models and human studies suggest that subsets of NK cells have adaptive features. We investigate clonal relationships of various NK cell subsets, including the adaptive population, by taking advantage of naturally occurring X-linked somatic PIGA mutations in hematopoietic stem and progenitor cells (HSPC) from patients with paroxysmal nocturnal hemoglobinuria (PNH). The affected HSPCs and their progeny lack expression of glycosylphosphatidylinositol (GPI) anchors on their cell surfaces, allowing quantification of PIGA-mutant (GPI-negative) HSPC-derived peripheral blood cell populations...
November 30, 2016: Blood
https://www.readbyqxmd.com/read/27884975/different-clinical-characteristics-of-paroxysmal-nocturnal-hemoglobinuria-in-pediatric-and-adult-patients
#16
Alvaro Urbano-Ispizua, Petra Muus, Hubert Schrezenmeier, Antonio Almeida, Amanda Wilson, Russell E Ware
No abstract text is available yet for this article.
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27837250/development-of-a-disease-specific-quality-of-life-questionnaire-for-patients-with-aplastic-anemia-and-or-paroxysmal-nocturnal-hemoglobinuria-qlq-aa-pnh-report-on-phases-i-and-ii
#17
Martha Groth, Susanne Singer, Cathrin Niedeggen, Andrea Petermann-Meyer, Alexander Röth, Hubert Schrezenmeier, Britta Höchsmann, Tim H Brümmendorf, Jens Panse
Acquired aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) are interrelated ultra-rare diseases. Quality of life (QoL) evaluation tools used in studies for AA and PNH are unspecific and designed for cancer patients (e.g., the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire, EORTC QLQ-C30). Given the complexity of AA and PNH, variation in symptoms and treatments, younger age of many patients, and the fact that AA and PNH are not classified as malignant diseases, it is likely that cancer-specific questionnaires are inappropriate...
February 2017: Annals of Hematology
https://www.readbyqxmd.com/read/27812245/paroxysmal-nocturnal-hemoglobinuria-from-bench-to-bed
#18
REVIEW
Amrallah A Mohammed, Hani El-Tanni, Tariq Al-Malki Atiah, Arwa Al-Malki Atiah, Marwan Al-Malki Atiah, Ayman A Rasmy
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia with highly variable clinical symptoms making the diagnosis and prediction of its outcome difficult. It is caused by the expansion of a hematopoietic progenitor cell that has acquired a mutation in the X-linked phosphatidylinositol glycan class A (PIGA) gene that results in deficiency of the glycosylphosphatidylinositol anchor structure responsible for fixing a wide spectrum of proteins particularly CD55 and CD59. The clinical features of this disease arise as a result of complement-mediated hemolysis in unprotected red cells, leukocytes, and platelets as well as the release of free hemoglobin...
December 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27811836/recommendations-for-use-of-meningococcal-conjugate-vaccines-in-hiv-infected-persons-advisory-committee-on-immunization-practices-2016
#19
Jessica R MacNeil, Lorry G Rubin, Monica Patton, Ismael R Ortega-Sanchez, Stacey W Martin
At its June 2016 meeting, the Advisory Committee on Immunization Practices (ACIP) recommended routine use of meningococcal conjugate vaccine (serogroups A, C, W, and Y; including MenACWY-D [Menactra, Sanofi Pasteur] or MenACWY-CRM [Menveo, GlaxoSmithKline]) for persons aged ≥2 months with human immunodeficiency virus (HIV) infection. ACIP has previously recommended routine vaccination of persons aged ≥2 months who have certain medical conditions that increase risk for meningococcal disease (1), including persons who have persistent (e...
November 4, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27810992/small-molecule-factor-d-inhibitors-selectively-block-the-alternative-pathway-of-complement-in-paroxysmal-nocturnal-hemoglobinuria-and-atypical-hemolytic-uremic-syndrome
#20
Xuan Yuan, Eleni Gavriilaki, Jane A Thanassi, Guangwei Yang, Andrea C Baines, Steven D Podos, Yongqing Huang, Mingjun Huang, Robert A Brodsky
Paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome are diseases of excess activation of the alternative pathway of complement that are treated with eculizumab, a humanized monoclonal antibody against the terminal complement component C5. Eculizumab must be administered intravenously, and moreover some patients with paroxysmal nocturnal hemoglobinuria on eculizumab have symptomatic extravascular hemolysis, indicating an unmet need for additional therapeutic approaches. We report the activity of two novel small-molecule inhibitors of the alternative pathway component Factor D using in vitro correlates of both paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome...
March 2017: Haematologica
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