» Articles » PMID: 32637290

Rare Hematological Disease of Paroxysmal Nocturnal Hemoglobinuria With Profound Implications for a Gastroenterologist: A Case Report and Literature Review

Overview
Journal Cureus
Date 2020 Jul 9
PMID 32637290
Citations 1
Authors
Affiliations
Soon will be listed here.
Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare type of thrombophilia and hematopoietic stem cell disorder characterized by mutation of the X-linked PIG-A gene. Patients with PNH present either with clinical features of intravascular hemolysis or thrombosis. Visceral vein thrombosis is associated with increased mortality risk. Here, we present an extremely rare case of a young man presenting with extensive thrombosis of multiple visceral veins from PNH.

Citing Articles

Case report: Paroxysmal nocturnal hemoglobinuria presenting with hemorrhagic esophageal varices.

Du R, Zheng L, Liu P, Zhao Y, Yang Y, Zhang L Front Med (Lausanne). 2023; 10:1276030.

PMID: 37954556 PMC: 10634371. DOI: 10.3389/fmed.2023.1276030.

References
1.
Dusse L, Cooper A, Lwaleed B . Tissue factor and nitric oxide: a controversial relationship!. J Thromb Thrombolysis. 2007; 23(2):129-33. DOI: 10.1007/s11239-006-0001-9. View

2.
Bessler M, Hiken J . The pathophysiology of disease in patients with paroxysmal nocturnal hemoglobinuria. Hematology Am Soc Hematol Educ Program. 2008; :104-10. DOI: 10.1182/asheducation-2008.1.104. View

3.
Wiedmer T, Hall S, Ortel T, Kane W, Rosse W, Sims P . Complement-induced vesiculation and exposure of membrane prothrombinase sites in platelets of paroxysmal nocturnal hemoglobinuria. Blood. 1993; 82(4):1192-6. View

4.
Ponziani F, Zocco M, Campanale C, Rinninella E, Tortora A, Di Maurizio L . Portal vein thrombosis: insight into physiopathology, diagnosis, and treatment. World J Gastroenterol. 2010; 16(2):143-55. PMC: 2806552. DOI: 10.3748/wjg.v16.i2.143. View

5.
Peffault de Latour R, Mary J, Salanoubat C, Terriou L, Etienne G, Mohty M . Paroxysmal nocturnal hemoglobinuria: natural history of disease subcategories. Blood. 2008; 112(8):3099-106. DOI: 10.1182/blood-2008-01-133918. View