- Fluorescent Aerolysin (FLAER)-based paroxysmal nocturnal hemoglobinuria (PNH) screening: a single center experience from India. [Journal Article]
- IJInt J Lab Hematol 2017 Apr 22
- CONCLUSIONS: FLAER-based screening detects the presence of PNH clone in a high proportion of AA patients and some MDS patients. These patients usually have a small clone size. Even if they have a large clone, it does not get translated into a high LDH or severe clinical symptoms.
- Risitano AM, Ricklin D, Huang Y, et al. Peptide inhibitors of C3 activation as a novel strategy of complement inhibition for the treatment of paroxysmal nocturnal hemoglobinuria. Blood. 2014;123(13):2094-2101. [Journal Article]
- BloodBlood 2017 Apr 13; 129(15):2205
- Diagnosing nocturnal paroxysmal hemoglobinuria: a single-center 4-year experience. [Journal Article]
- IJInt J Lab Hematol 2017 Apr 13
- CONCLUSIONS: Our findings reinforce guidelines from the International PNH Interest Group which suggest testing for PNH in the setting of unusual thrombosis, HA, aplastic/hypoplastic bone marrow disorders, or MDS, as these have a higher pretest probability. This probability drops to zero in our study in nonrecommended indications. This reflects the need for better education of clinicians about the disease PNH and the indications for diagnostic testing.
- A retrospective study of paroxysmal nocturnal hemoglobinuria in pediatric and adolescent patients. [Journal Article]
- BCBlood Cells Mol Dis 2017 Mar 18; 64:45-50
- Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children, characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. We descri...
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children, characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. We describe 16 patients who were diagnosed with PNH in childhood or adolescence. The time interval between the onset of symptoms and the PNH diagnosis and its treatment were compared in patients with classic PNH versus PNH associated with bone marrow disorder (PNH/BMD). A greater delay in diagnosis was observed in classic PNH compared to PNH/BMD patients. The first group of patients had higher levels of LDH, total bilirubin and absolute reticulocyte count and a bigger PNH clone size compared to PNH/BMD patients; also thrombotic events were observed only in the classic form of PNH. Conversely, PNH/BMD patients showed lower median levels of platelets. Apart from standard supportive measures, four patients with classic PNH received eculizumab whereas four patients with PNH/BMD underwent hematopoietic stem cell transplantation. Our series confirm that the most frequent presentation of PNH in the pediatric-adolescent age is PNH/BMD. The delay between the onset of symptoms and PNH diagnosis is relevant principally in the classic form. Moreover, our study showed that any case of unexpected thrombosis represents a criterium to perform a PNH screening.
- Recurrent Donath-Landsteiner hemolytic anemia: a pediatric case report. [Case Reports]
- TTransfusion 2017 Mar 31
- CONCLUSIONS: This demonstrates that PCH can be a recurrent disease in the pediatric population (in the absence of syphilis) with the classical D-L antibody.
- Multicenter validation of a simplified method for paroxysmal nocturnal hemoglobinuria screening. [Journal Article]
- EJEur J Haematol 2017 Mar 23
- CONCLUSIONS: A simplified two-color (FLAER/CD15) PNH screening test has been validated in a highly standardized multicenter study and proved feasible and effective in ongoing regional programs. Precision, sensitivity, and specificity of the simplified test for granulocytes were comparable to the more complex and expensive six-color assay and applicable for screening also in peripheral laboratories. The diagnostic confirmation of PNH should be always performed by a reference center using the established technique on all cell lineages.
- Atypical presentation of paroxysmal nocturnal hemoglobinuria treated by eculizumab: A case report. [Case Reports]
- MMedicine (Baltimore) 2017; 96(12):e6403
- 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...
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.
- Haptoglobin is frequently low in patients with myelofibrosis: Clinical relevance. [Journal Article]
- LRLeuk Res 2017 Mar 08; 57:85-88
- 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...
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. Factors strongly correlating with decreased haptoglobin were high JAK2 allele burden and ongoing treatment with JAKi. Larger scale serial measurement and longer follow-up is needed to further explain our findings.
- Paroxysmal nocturnal haemoglobinuria in a patient with primary Budd-Chiari syndrome: a contraceptive challenge. [Journal Article]
- EJEur J Contracept Reprod Health Care 2017; 22(2):152-155
- CONCLUSIONS: Budd-Chiari syndrome is defined by the presence of hepatic venous outflow tract obstruction, which may be due to a number of underlying causes. PNH is a rare, acquired, life-threatening disease characterised by red blood cell destruction (haemolytic anaemia), blood clots (thrombosis) and impaired bone marrow function. PNH is a known underlying cause of Budd?Chiari syndrome. Patients with PNH carry an increased risk of mortality, particularly during pregnancy. As such, pregnancy is absolutely contraindicated in these patients, who require strict contraceptive regimens. However, the presence of both PNH and Budd?Chiari syndrome limits contraceptive choices and poses a contraceptive challenge.
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- Management of thrombosis in paroxysmal nocturnal hemoglobinuria: a clinician's guide. [Review]
- TATher Adv Hematol 2017; 8(3):119-126
- 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 a...
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.