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