A CASE OF THROMBOSIS DUE TO PAROXYSMAL NOCTURNAL HAEMOGLOBINURIA PRESENTING AT AN EARLY AGE

Authors

  • Qurrat-ul- Ain Shalamar Hospital, Lahore
  • Huzaifa Saleem House officer Medicine Department, Shalamar Hospital Lahore
  • Sarwat Iqbal Assistant Professor Medicine Department, Shalamar Hospital Lahore
  • Rabia Ghayas Post Graduate Trainee Medicine Department, Arif Memorial Teaching Hospital Lahore

Abstract

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. Flow cytometry showed loss of CD59 expression on erythrocytes confirming the diagnosis of paroxysmal nocturnal hemogloubinuria. Supportive treatment was given with haematinics, blood transfusions and anticoagulants. After that, hematopoietic stem cell transplantation was conducted successfully as a permanent treatment. PNH can present at an earlier age and therefore should be included in differential diagnosis of haemolytic anaemia.Keywords: Paroxysmal Nocturnal Hemoglobinuria; thrombosis; hematinic

References

Luzzatto L. Recent advances in the pathogenesis and treatment of paroxysmal nocturnal hemoglobinuria. F1000Res 2016;5.

Brodsky RA. Paroxysmal nocturnal hemoglobinuria. Blood 2014;124(18):2804–11.

Mandala E, Lafaras C, Goulis I, Tsioni K, Georgopoulou V, Ilonidis G. Treatment of a patient with classical paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome, with complement inhibitor eculizumab: Case Report. Hippokratia 2013;17(1):81–4.

Mahmood A, Sharif MA, Murtaza B. Paroxysmal nocturnal hemoglobinuria. J Coll Physicians Surg Pak 2008;18(8):512–4.

Brodsky RA, Schrier SL, Tirnauer J. Clinical manifestations and diagnosis of paroxysmal nocturnal hemoglobinuria. UpToDate Waltham MA Walters Kluwer Health. 2016.

Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R, et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood 2005;106(12):3699–709.

Rother RP, Bell L, Hillmen P, Gladwin MT. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease. JAMA 2005;293(13):1653–62.

Bourantas K. High-dose recombinant human erythropoietin and low-dose corticosteroids for treatment of anemia in paroxysmal nocturnal hemoglobinuria. Acta Haematol 1994;91(2):62–5.

Parker C. Eculizumab for paroxysmal nocturnal haemoglobinuria. Lancet 2009;373(9665):759–67.

Published

2018-02-15

Issue

Vol. 30 No. 1 (2018): JOURNAL OF AYUB MEDICAL COLLEGE, ABBOTTABAD

Section

CASE REPORT

License

Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License  CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.

USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.

AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.