Hereditary protein C deficiency (PCD) is caused by mutation in the PC gene (PROC). The homozygous mutation form of PCD is rare. Furthermore, in Asia, cases of noncirrhotic patients with portal vein thrombosis (PVT) secondary to PCD have been rarely reported. The present study reported the case of a patient with PVT due to hereditary PCD. Of note, the mutation of PROCc.152G>A was observed in the patient of the present study. According to the current literature, there has been no previous report regarding the mutation of this gene in China. The patient suffered abdominal pain for 20 days, which was accompanied by vomiting for 2 days. Multiple ulcers and diverticula in the sigmoid colon, as well as erosive small ulcers throughout the colon, were discovered during a colonoscopy. Abdominal angiography indicated thrombosis of the portal vein and its branches. Furthermore, laboratory parameters indicated a hypercoagulable state with normal PC antigen values but decreased PC activity. The discovery of blood coagulation-related genes suggested that homozygous mutation in PC resulted in an amino acid missense mutation. Anticoagulants were prescribed after a diagnosis of type II hereditary PCD with PVT was made. After 15 days, the blood coagulation function of the patient was restored to normal and the symptoms were substantially alleviated. Hence, the present study expanded the mutation spectrum of PROC in China and reaffirmed the value of anticoagulant therapy in PCD.

Ectopic varices are portosystemic collaterals that occur away from the gastroesophageal junction and account for 1-5% of all variceal bleeding. Its occurrence in the jejunum is rare. Most common cause of ectopic jejunal varices is portal hypertension especially in those patients who have undergone prior abdominal surgery. Portomesenteric thrombosis is a rare cause of ectopic jejunal varices. Ectopic varices are rare cause of obscure GI bleeding and hence should be always suspected in patients with history of portal hypertension who present with GI bleeding and have negative upper and lower GI endoscopies. Management of patients with ectopic varices is often very challenging and requires multidisciplinary approach. Therapeutic options include endoscopic therapy, interventional radiologic procedures, surgically creating shunting, or surgical resection. We present the case of a 52-year-old patient who was on anticoagulation for extensive portomesenteric thrombosis secondary to factor V Leiden heterozygous mutation and presented with melena and symptomatic anemia. Investigations showed bleeding jejunal varices as the cause of anemia. We discuss the therapeutic options and dilemma in the management of such cases.

Bleeding ectopic small bowel varices pose a clinical dilemma for the physician, given their diagnostic obscurity and the lack of evidence-based medicine to guide therapy. They often occur in the context of portal hypertension, secondary to either liver disease or extrahepatic causes. Rarely is their presence associated with chronic superior mesenteric vein thrombosis and hereditary coagulopathies.

A 74-year-old white woman, with a heterozygous Factor V Leiden mutation and no underlying liver disease or portal hypertension, presented over the course of 13 months for recurrent episodes of melena and per rectal bleeding. An initial endoscopy showed a clean-based chronic gastric ulcer, while colonoscopies showed multiple, non-bleeding angioectasias which were treated with argon plasma coagulation. Subsequent video capsule endoscopy and double balloon enteroscopy revealed red wale marks overlying engorged submucosal veins in her distal ileum, consistent with ectopic varices. A chronic superior mesenteric vein thrombus, found via computed tomography venogram, was the cause of the ileal varices. She underwent curative surgical resection of the affected bowel, with no re-bleeding episodes 17 months post-surgery, despite needing lifelong anticoagulation for recurrent venous thromboembolisms.

Clinicians should consider ectopic varices in patients who present with obscure gastrointestinal bleeding, even in the absence of portal hypertension or liver disease. In those with a known thrombophilia, patients should be screened for splanchnic thrombosis, which may precipitate ectopic varices.