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Paroxysmal Nocturnal Hemoglobinuria is rare cause for thrombosis of the intra‐abdominal veins in the ethnic Indian population – results from FLAER ‐based flowcytometry screening
Author(s) -
Ahluwalia Jasmina,
Naseem Shano,
Sachdeva Man Updesh Singh,
Bose Parveen,
Bose Sunil Kumar,
Kumar Narender,
Thapa Babu Ram,
Varma Neelam,
Chawla Yogesh Kumar
Publication year - 2014
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12265
Subject(s) - paroxysmal nocturnal hemoglobinuria , medicine , thrombophilia , thrombosis , factor v leiden , lupus anticoagulant , protein s , population , gastroenterology , immunology , protein s deficiency , eculizumab , venous thrombosis , antibody , environmental health , complement system
Abstract Background Paroxysmal nocturnal hemoglobinuria ( PNH ) may present as cytopenia, hemolysis, or thrombosis at unusual sites including splanchnic vessels. Thrombosis of the portal veins and hepatic veins are associated with thrombophilic risk factors: deficiencies of protein C, protein S, and antithrombin, positivity for antiphospholipid antibodies, and factor V Leiden mutation. There is limited information regarding PNH presenting primarily as a thrombotic event. We prospectively screened 142 consecutive patients with intrabdominal thrombosis and 106 controls with fluorescently labeled inactive toxin aerolysin ( FLAER )‐based flowcytometry to assess the frequency of PNH as a thrombophilic risk factor in patients with intra‐abdominal thrombosis. Methods Granulocytes of patients and controls were screened with CD 24 and FLAER and monocytes with CD 14 and FLAER . Dual negativity of >1% events in both lineages was interpreted as a positive PNH clone. Screening for thrombophilia risk factors was carried out. Results Two (1.4%) cases had large PNH clones. RBC also demonstrated the PNH defect. Thrombophilia risk factors were as follows: deficiency of protein S, protein C, and antithrombin in 13.4%, 4.9%, and 2.1%, respectively, and positivity for anti‐beta‐2 glycoprotein 1, anticardiolipin antibodies, and lupus anticoagulant in 9.2%, 1.4%, and 0.7%, respectively. Factor V Leiden mutation was seen in 1.4% patients. Conclusion PNH was uncommon in patients with intra‐abdominal thrombosis in the ethnic Indian population. Despite low positivity, screening by flowcytometry for PNH is of value in this group of patients because it provides an opportunity to rapidly establish the diagnosis of this treatable disorder, which might otherwise be missed if the initial presentation is only thrombotic.