Ahmed H. abdelwahed, MBBCh1, Garima Gautam, MD2, Haris Patail, MD2, Raj Parikh, MD3, Julie Braish, MBBCh2 1University of Connecticut-Hartford, Farmington, CT; 2University of Connecticut, Farmington, CT; 3Hartford Health Care, Hartford, CT
Introduction: Non-cirrhotic portal hypertension (NCPH) is a rare clinical entity that occurs in the absence of liver disease or portal vein thrombosis. The pathogenesis is complex and includes pro-thrombotic diseases as an occult etiology making the diagnosis very challenging. We herein report a case of esophageal varices with Janus Kinase 2 (JAK 2) mutation. The case raises awareness for this atypical clinical entity.
Case Description/Methods: A 72- year-old male with a past medical history of gout was presented with hematemesis. He was hemodynamically stable. His physical examination was unremarkable. His laboratory tests revealed WBCs of 14.7 g/dl, HGB of 10 g/dl, bilirubin of 1.7 mg/dl, and direct bilirubin of 0.4 mg/dl. His Platelets, liver transaminases, kidney function tests, activated thromboplastin time and prothrombin time were normal. CT of his abdomen showed small perigastric and perisplenic varicosities. The ultrasound abdomen with duplex showed scant ascites but a patent portal vein and hepatic arteries. Upper endoscopy revealed large esophageal varices in the middle and lower third of the esophagus that was banded with 6 bands but incompletely eradicated (figure1, 2, 3, 4). The patient underwent a percutaneous liver biopsy with ultrasound guidance that revealed normal liver with no stigmata of fibrosis or inflammation. Extensive hypercoagulable work up was pursued with; anti-thrombin III activity, cardiolipin antibody, factor v Leiden, lupus anticoagulant, protein C, protein S and JAK 2 mutation. He was positive for a heterozygous allele of JAK2V617F mutation. Upper endoscopy in two weeks showed large varices in the lower third of the esophagus and 4 bands were applied. Surveillance endoscopy a month later showed only small varices (less than 5 mm).
Discussion: NCPH is a rare clinical entity that is characterized by the presence of portal hypertension stigmata in the absence of clear liver disease or portal vein thrombosis. Heterogeneous diseases are associated with this condition including pro-thrombotic conditions. Like our patient, acute gastrointestinal bleeding is a common presentation. One of the hypotheses of the pathophysiology is the increased intrahepatic resistance in a process of phlebosclerosis.That could be seen in aberrant coagulation activity which could be seen in blood disorders as JAK-2 mutation. The diagnosis is exceedingly difficult to make and needs high clinical suspicion. Thorough hypercoagbuality work up should be pursued when portal hypertension could not be explained.
Figure: EGD Pictures: (1,2): Large esophageal varices in the lower third of the esophagus. (3): Gastroesophageal junction. (4): Blood in gastric body
Ahmed abdelwahed indicated no relevant financial relationships.
Garima Gautam indicated no relevant financial relationships.
Haris Patail indicated no relevant financial relationships.
Raj Parikh indicated no relevant financial relationships.
Julie Braish indicated no relevant financial relationships.
Ahmed H. abdelwahed, MBBCh1, Garima Gautam, MD2, Haris Patail, MD2, Raj Parikh, MD3, Julie Braish, MBBCh2. P3512 - A Case of Portal Hypertension in a Patient With JAK2 Mutation in Absence of Portal Vein Thrombosis, ACG 2023 Annual Scientific Meeting Abstracts. Vancouver, BC, Canada: American College of Gastroenterology.