A rare case of idiopathic non-cirrhotic portal HTN in a patient with idiopathic thrombocytopenia purpura Free

Introduction: Idiopathic non-cirrhotic portal hypertension (INCPH) is a rare condition characterized by clinical portal hypertension that is not accompanied by cirrhosis or other known causes of portal HTN. We describe a rare case of INCPH in a patient with a history of idiopathic thrombocytopenic purpura (ITP), highlighting the diagnostic challenges and the association between portal HTN and hematological disorders.

Case Presentation: A 38-year-old woman presented to the emergency room with complaints of nausea and abdominal pain. She had a past medical history of ITP, irritable bowel syndrome, and a surgical history of hysterectomy for abnormal uterine bleeding. Laboratory studies revealed pancytopenia. CT abdomen and pelvis was pursued because of abdominal pain. It showed splenomegaly and splenic and gastroesophageal varices in addition to recanalization of the umbilical vein, pointing towards the diagnosis of portal hypertension. But there was no evidence of hepatic steatosis or cirrhosis on CT.

Esophagogastroduodenoscopy was done, which was significant for grade 2 esophageal varices; however, there were no stigmata of recent bleed. A doppler ultrasound and a triphasic CT scan showed patent portal vein, hepatic veins, and the IVC. MRI/MRCP ruled out infiltrative disease and focal hepatic lesions. Following that, transjugular liver biopsy with hepatic venography and hemodynamic evaluation was carried out. It showed hepatic vein wedge pressure of 28 mmHg, right atrial pressure of 16 mmHg, and a portosystemic gradient of 12 mmHg. It also showed the hepatic vein was patent. The results of liver biopsy showed normal lobular architecture without any significant steatosis or inflammation. Right-sided cardiac catheterization was also performed, which demonstrated normal pulmonary artery and right-sided pressures along with normal cardiac output and cardiac index.

A comprehensive evaluation of the numerous potential causes of portal hypertension, including HIV, autoimmune diseases, viral hepatitis, myeloproliferative neoplasms (JAK2 mutation), thrombophilia panel, and infectious etiologies, did not yield any significant results. Based on the results of the flow cytometry examination of the bone marrow, lymphoproliferative diseases and myelodysplastic syndromes were removed from consideration as well. Despite the extensive workup, no cause of portal HTN could be established.

Discussion: In literature, idiopathic portal HTN has been associated with hematological conditions including protein C-S deficiencies, factor-II mutation and factor-V Leiden mutation. In 2002, researchers investigated a group of INCPH patients for prothrombotic conditions. The authors concluded that prothrombotic disorders were found in 50% of the IPH cases. The presence of microthrombi and platelet aggregates in distal venules has been described as possible pathophysiological mechanisms linking INCPH and prothrombotic conditions. Our patient had a history of ITP, which according to the growing evidence base is associated with an increased risk of thrombosis. Based on the strong association between prothrombotic conditions and INCPH, we can hypothesize a possible association between ITP and idiopathic non-cirrhotic portal HTN. However, further research is needed to establish an association.