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Paroxysmal nocturnal haemoglobinuria

Qurrat Ul Ain, Huzaifa Saleem, Sarwat Iqbal, Rabia Ghayas
Paroxysmal Nocturnal Haemoglobinuria (PNH) is an acquired, rare life-threatening disorder characterised by compliment mediated hemolytic anemia, thrombosis and impaired bone marrow function. It occasionally presents in childhood or adolescence. This is a case of a 14-year old female presented with complaints of shortness of breath, palpitation and abdominal pain whose laboratory test results were consistent with Coomb's test negative haemolytic anaemia. Contrast enhanced Computed Tomography Scan (CT scan) of abdomen revealed splanchnic circulation thrombosis as well as partially occluding thrombus in the inferior vena cava...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
David Zekria, Peter Boavida
Paroxysmal nocturnal haemoglobinuria, a rare, acquired, life-threatening disease of the blood, is characterised by a triad of haemolysis previously believed to occur mainly at night, bone marrow dysfunction, and thrombophilia. Paroxysmal nocturnal haemoglobinuria is customarily regarded to manifest clinically as haemolytic anaemia and haemoglobinuria experienced as reddened urine in the morning, pancytopenia, and thrombosis. We describe a case in which an abnormal segment of small bowel as visualised on computed tomography was the principal sign of the disease process on presentation...
December 2017: Radiology Case Reports
Mrinalini Kotru, Rahul Sharma, Suman Kumar Pramanik, Abhishek Purohit, Gurmeet Singh, Avinash Kumar Singh, Deepti Muterja, Pravas Mishra, Tulika Seth, Seema Tyagi, Manoranjan Mahapatra, Hara Prasad Pati, Renu Saxena
BACKGROUND & OBJECTIVES: Diagnosis of paroxysmal nocturnal haemoglobinuria (PNH), a rare haematopoietic stem cell disorder, is challenging in patients with bone marrow failure (BMF) syndrome like aplastic anaemia (AA). This study was conducted with the aim to test the efficacy of the newly recommended markers viz. anti-CD16 and CD66b antibody over the existing anti-CD55 and CD59 antibody for PNH diagnosis in India. METHODS: This study was conducted on 193 suspected cases of PNH by flow cytometry using lyse wash technique to stain the granulocytes with CD16/CD66b and CD55/CD59...
September 2017: Indian Journal of Medical Research
Barnaby Peacock-Young, Fraser L Macrae, Darren J Newton, Anita Hill, Robert A S Ariëns
Paroxysmal nocturnal hemoglobinuria is a rare acquired hematologic disorder, the most serious complication of which is thrombosis. The increased incidence of thrombosis in paroxysmal nocturnal hemoglobinuria is still poorly understood, but unlike many other thrombotic disorders, predominantly involves complement-mediated mechanisms. This review article discusses the different factors that contribute to the increased risk of thrombosis in paroxysmal nocturnal hemoglobinuria. Paroxysmal nocturnal hemoglobinuria leads to a complex and multifaceted prothrombotic state due to the pathological effects of platelet activation, intravascular hemolysis and neutrophil/monocyte activation...
January 2018: Haematologica
James T England, Bakul Dalal, Heather A Leitch
Referral to hematology for anemia is common. In paroxysmal nocturnal hemoglobinuria (PNH), cells deficient in the glycosylphosphatidyl inositol (GPI) anchor are lysed by complement. Eculizumab improves overall survival and quality of life while reducing hemolysis, transfusion requirements, and thrombosis. We evaluated the frequency of screening for PNH in patients with unexplained anemia. Key clinical features, laboratory data, and investigations were recorded for patients referred for anemia since 2010, without a specific cause found...
November 14, 2017: Journal of Clinical Pathology
Elena Román, Santiago Mendizábal, Isidro Jarque, Javier de la Rubia, Amparo Sempere, Enrique Morales, Manuel Praga, Ana Ávila, José Luis Górriz
Understanding the role of the complement system in the pathogenesis of atypical haemolytic uraemic syndrome and other thrombotic microangiopathies (TMA) has led to the use of anti-complement therapy with eculizumab in these diseases, in addition to its original use in patients with paroxysmal nocturnal haemoglobinuria andatypical haemolytic uraemic syndrome. Scientific evidence shows that both primary and secondary TMAs with underlying complement activation are closely related. For this reasons, control over the complement system is a therapeutic target...
September 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
L Whitby, J White, M Fletcher, A Whitby, C Milkins, D Barnett
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare stem cell disorder causing, in untreated patients, symptoms that include renal damage, thrombosis and increased mortality. When correctly diagnosed and treated, patients have reduced symptoms and normal life expectancies. Historically PNH testing resided within blood transfusion laboratories using techniques that were insensitive, for example, the Ham test. However, technology has evolved and flow cytometry is now regarded as the gold standard methodology...
August 18, 2017: Transfusion Medicine
Zain Ul Abideen, Munnam Sohail Jafar, Nasir Hameed, Ahmad Malik
Paroxysmal nocturnal haemoglobinuria is a non-malignant stem cell disorder due to acquired somatic mutations in cell surface anchored proteins CD55 and CD59. Both have a compliment inhibitory role and their deficiency leads to intravascular haemolysis. This paper reports a challenging case of a 25 years old male who presented with generalized weakness, exertional dyspnoea and episodic early morning haematuria. Recently, he started developing progressive abdominal distention and dull generalized abdominal pain...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
Shahzad Sarwar, Monazza Chaudhry, Natasha Ali
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, acquired, life-threatening haematological disorder. It is characterised by complement induced haemolytic anaemia, thrombosis and impaired bone marrow function. Thrombosis most commonly occurs in the hepatic, portal, superior mesenteric and cerebral veins. A22-year female, previously diagnosed with severe aplastic anaemia treated with anti-lymphocyte globulin (ALG) and cyclosporine, had become transfusion independent for more than 10 years. She presented with abdominal pain and vomiting, initially diagnosed with portal and superior mesenteric vein thrombosis...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Atsushi Narita, Hideki Muramatsu, Yusuke Okuno, Yuko Sekiya, Kyogo Suzuki, Motoharu Hamada, Shinsuke Kataoka, Daisuke Ichikawa, Rieko Taniguchi, Norihiro Murakami, Daiei Kojima, Eri Nishikawa, Nozomu Kawashima, Nobuhiro Nishio, Asahito Hama, Yoshiyuki Takahashi, Seiji Kojima
The clinical significance of paroxysmal nocturnal haemoglobinuria (PNH) in children with aplastic anaemia (AA) remains unclear. We retrospectively studied 57 children with AA between 1992 and 2010. During the follow-up, five patients developed clinical PNH, in whom somatic PIGA mutations were detected by targeted sequencing. The 10-year probability of clinical PNH development was 10·2% (95% confidence interval, 3·6-20·7%). Furthermore, the detection of minor PNH clones by flow cytometry at AA diagnosis was a risk factor for the subsequent development of clinical PNH...
September 2017: British Journal of Haematology
Per H Nilsson, Anub Mathew Thomas, Grethe Bergseth, Alice Gustavsen, Elena B Volokhina, Lambertus P van den Heuvel, Andreas Barratt-Due, Tom E Mollnes
The complement system has obtained renewed clinical focus due to increasing number of patients treated with eculizumab, a monoclonal antibody inhibiting cleavage of C5 into C5a and C5b. The FDA approved indications are paroxysmal nocturnal haemoglobinuria and atypical haemolytic uremic syndrome, but many other diseases are candidates for complement inhibition. It has been postulated that eculizumab does not inhibit C5a formation in vivo, in contrast to what would be expected since it blocks C5 cleavage. We recently revealed that this finding was due to a false positive reaction in a C5a assay...
September 2017: Molecular Immunology
A M Almeida, C Bedrosian, A Cole, P Muus, H Schrezenmeier, J Szer, W F Rosse
BACKGROUND: Eculizumab reduces intravascular haemolysis and improves disease symptoms in patients with paroxysmal nocturnal haemoglobinuria (PNH). AIMS: To characterize, in a real-world setting, effect of eculizumab in patients with haemolytic PNH (LDH ≥1.5 ULN) and no history of red blood cell transfusion, including those with high disease activity (HDA). METHODS: Three populations from the International PNH Registry were studied: 1) non-transfused, untreated, 2) non-transfused, eculizumab-treated, 3) transfused, eculizumab-treated (≥1 transfusions in 6 months prior to eculizumab initiation)...
June 13, 2017: Internal Medicine Journal
Anita Hill, Amy E DeZern, Taroh Kinoshita, Robert A Brodsky
Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal haematopoietic stem cell (HSC) disease that presents with haemolytic anaemia, thrombosis and smooth muscle dystonias, as well as bone marrow failure in some cases. PNH is caused by somatic mutations in PIGA (which encodes phosphatidylinositol N-acetylglucosaminyltransferase subunit A) in one or more HSC clones. The gene product of PIGA is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; thus, PIGA mutations lead to a deficiency of GPI-anchored proteins, such as complement decay-accelerating factor (also known as CD55) and CD59 glycoprotein (CD59), which are both complement inhibitors...
May 18, 2017: Nature Reviews. Disease Primers
(no author information available yet)
No abstract text is available yet for this article.
May 18, 2017: Nature Reviews. Disease Primers
Maria Khan, Saqib Qayyum Ahmad, Mukarram Bashir, Parvez Ahmed, Muhammad Ayyub
The aim of this study was to determine the frequency of various clinico-haematological features in patients suffering from paroxysmal nocturnal haemoglobinuria (PNH). It was an observational study carried out from October 2008 - January 2016. All the patients of PNH, diagnosed on the basis of clinical and laboratory findings and confirmed by CD55 and CD59 deficiency on red cells by means of flow cytometry, were included in the study. A total of 22 patients were diagnosed which included 18 (81.8%) males and 4 (18...
January 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Nigel P Murray, M Amparo Ruiz, G Maximiliano Miranda
Patients diagnosed with severe aplastic anaemia and without a compatible bone marrow transplant donor are treated with immunosuppressive therapy. These patients are found with time to develop a clonal disease such as myelodysplasia or paroxysmal nocturnal haemoglobinuria. However, the development of plasma cell dyscrasias is rare. We report the case here of a patient treated with immunosuppressive therapy who went on to develop myeloma 11 months after being diagnosed with severe aplastic anaemia. We include here a review of the literature...
2017: Ecancermedicalscience
Isabel Friedmann, Jacques Balayla
CASE REPORT: In this report, we describe the unique case of a 21 year-old woman, gravida 1, para 1, with paroxysmal nocturnal haemoglobinuria (PNH) and Budd-Chiari syndrome, as well as severe vaginismus and cervical stenosis, in need of contraception. Herein, we present the clinical considerations and implications taken to arrive at the right contraceptive choice for the patient. DISCUSSION: Budd-Chiari syndrome is defined by the presence of hepatic venous outflow tract obstruction, which may be due to a number of underlying causes...
April 2017: European Journal of Contraception & Reproductive Health Care
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
Kohei Hosokawa, Sachiko Kajigaya, Keyvan Keyvanfar, Wangmin Qiao, Yanling Xie, Angelique Biancotto, Danielle M Townsley, Xingmin Feng, Neal S Young
The aetiology of paroxysmal nocturnal haemoglobinuria (PNH) is a somatic mutation in the X-linked phosphatidylinositol glycan class A gene (PIGA), resulting in global deficiency of glycosyl phosphatidylinositol-anchored proteins (GPI-APs). This study applied RNA-sequencing to examine functional effects of the PIGA mutation in human granulocytes. CXCR2 expression was increased in GPI-AP- compared to GPI-AP+ granulocytes. Macrophage migration inhibitory factor, a CXCR2 agonist, was significantly higher in plasma of PNH patients...
April 2017: British Journal of Haematology
Marilena Briglia, Maria Antonia Rossi, Caterina Faggio
Prior to senescence, erythrocytes may, experience injury which compromises their integrity and thus triggers suicidal erythrocyte death or eryptosis. This mechanism is characterised by cell shrinkage, cell membrane blebbing, and cell membrane phospholipid scrambling after phosphatidylserine exposure on the cell surface that is identified by macrophages which engulf and degrade the eryptotic cells. The term eryptosis also includes typical mechanisms, which contribute to the triggering of this process. Among them: oxidative stress, Ca2+ entry with an increase in cytosolic Ca2+ activity ([Ca ]i) and the activation of p38 kinase, which is a kinase expressed in human erythrocytes and activated after hyperosmotic shock...
November 18, 2016: Current Medicinal Chemistry
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