Isolated Recurrent Lower Limb Deep Vein Thrombosis: A Rare Presentation of Paroxysmal Nocturnal Hemoglobinuria

Introduction

Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon disease. Overall estimated prevalence of PNH is less than 1 in 100000. It is an acquired stem cell disorder characterized by chronic hemolytic anemia due to intravascular hemolysis, nocturnal hemoglobinuria, thrombosis, and pancytopenia.1 The PNH has been reported in all ages from 1 to 72 years but most common in young adults.

Abstract

Paroxysmal nocturnal hemoglobinuria(PNH) is an uncommon disease. Overall estimated prevalence of PNH is less than 1 in 100000. It is acquired stem cell disorder characterized by chronic hemolytic anemia due to intravascular hemolysis, nocturnal hemoglobinuria, thrombosis and pancytopenia-Non malignant clonal expansion of hematopoetic stem cells having acquired mutation of phosphatidylinositol glycan complementation class A gene (PIG-A) is the basic molecular defect.Thrombosis of visceral veins is common in PNH. Hepatic veins are commonly involved presenting as Budd Chiari Syndrome. Arterial thrombosis can also occur that lead to cerebral infarct. We evaluated a patient who was suffering from recurrent deep vein thrombosis (DVT) of left lower limb which is a rarely reported presentation of PNH.

Keywords

paroxysmal nocturnal hemoglobinuria, deep vein thrombosis, thrombophilia