Esophageal variceal bleeding: portal hypertension and portal vein thrombosis secondary to protein S deficiency – a case report

Abstract

Introduction: Proteins C and S play a key role in the inhibition of the coagulation cascade. Deficiencies of proteins C and S deficiency are rare conditions that lead to abnormal activation of the coagulation cascade, resulting in a prothrombotic state and an increased risk of venous thromboembolism. These deficiencies also pose a risk factor for the development of portal vein thrombosis (PVT). PVT secondary to these deficiencies in the acute phase is usually asymptomatic, but the disease in chronic cases may present with features suggestive of portal hypertension, usually hepatosplenomegaly, variceal bleeding. However, cavernous transformation of the portal vein due to proteins C and S is usually rare. Introduction and Importance: Proteins C and S are rare thrombophilic disorders that may present even with PVT, resulting in esophageal bleeding as an uncommon presentation. Hence, protein S and protein C deficiency should also be considered a cause of noncirrhotic portal hypertension with esophageal bleeding. Case Presentation: The authors hereby present you with the case of a 22-year-old female who presented with complaints of abdominal pain and black-colored stool in the emergency department. Clinical Discussion: Relevant investigations were sent, and she was treated in line with esophageal variceal bleeding with the cavernous transformation of a thrombosed portal vein secondary to noncirrhotic portal hypertension due to protein C and S deficiency. Esophageal varices were managed with rubber band ligation. An oral anticoagulant was started for the thrombophilic disorder. The patient was also advised for splenectomy for splenomegaly and ongoing anemia and thrombocytopenia. Conclusion: The main aim of the article is to highlight a rare case of protein S deficiency that has led to upper GI bleeding due to esophageal varices secondary to portal hypertension secondary to PVT. Esophageal variceal bleeding secondary to PVT is an uncommon presentation of protein S deficiency. PVT without liver cirrhosis is also uncommon. Protein S and C deficiency is a rare clotting disorder that may cause clots in vessels and ultimately dislodgement of clots that can result in life-threatening complications. Hence, timely diagnosis, treatment, and prophylaxis can prevent life-threatening complications.