NON-CIRRHOTIC PORTAL FIBROSIS CAUSING PORTAL HYPERTENSION

Portal hypertension is more prevalent in patients with liver cirrhosis and occurs infrequently in those without liver cirrhosis. Non-cirrhotic portal brosis (NCPF) and extrahepatic portal venous obstruction (EHPVO) are the two most common causes of non-cirrhotic portal hypertension. Unlike EHPVO, NCPF does not cause thrombosis of the extrahepatic portal vein. Sclerosis of the portal vein's medium and small branches occurs in NCPF. In NCPF, the hepatic venous pressure gradient (HVPG) is normal, in contrast to cirrhosis, where it is increased. Additionally, NCPF is referred to as non-cirrhotic intrahepatic portal hypertension (NCIPH), idiopathic portal hypertension, hepatoportal sclerosis, and benign intrahepatic portal hypertension. It is a disease with an unknown etiology that primarily affects middle-aged males and females and manifests as hematemesis and massive splenomegaly

Guidewires as Embolic Agents? Embolotherapy of Large Splenic Artery Aneurysms

Splenic artery aneurysms are among the more frequently diagnosed intra-abdominal aneurysms and are not infrequent in patients with raised portal venous pressure often requiring endovascular or surgical therapy. A 36-year-old female patient with Non-cirrhotic portal fibrosis and portal hypertension was diagnosed with multiple large splenic artery aneurysms for which she was initially operated which resulted in substantial blood loss during dissection that required embolotherapy. Initial attempts at coil embolization proved unsuccessful due to the wide aneurysmal neck and flow characteristics. Following which the aneurysmal sac was packed with multiple guidewires to act as a scaffold for further coil embolization. Subsequently, hemostasis was achieved and the patient underwent splenectomy later thereby demonstrating that embolization of large aneurysms can be accomplished with reasonable efficacy using guidewires.

PERSISTENT COLONIC SCHISTOSOMIASIS AMONG SYMPTOMATIC RURAL INHABITANTS IN THE EGYPTIAN NILE DELTA

Background and Aims: Human schistosomiasisis one of the most important and unfortunately neglected tropical diseases. The aim of the current study was to investigate the prevalence and characterize colonic schistosomiasis, among symptomatizing rural inhabitants of the Middle Northern region of the Egyptian Nile delta. Patients and Methods: This study recruited 193 inhabitants of the rural community in the Egyptian Nile Delta referred for colonoscopy because of variable symptoms. After giving a written informed consent, they were exposed to thorough history; clinical examination; stool analysis; abdominal ultrasonography, and pan-colonoscopy with biopsies. Results:Twenty-four cases out of the 193 patients had confirmed active schistosomiasis with prevalence rate of 12.4%. Bleeding with stool was the predominant manifestation of active schistosomainfection among the cases either alone or in combination with abdominal pain. On clinical examination, the majority of the patients (n=17; 70.8%)did not have organomegaly and 25% of them had clinically palpable splenomegaly. As far as, 75% of them had sonographically detected hepatic peri-portal fibrosis. Also 66.6% of patients havesignificant endoscopic lesions (polyps, ulcers, mass-like lesions), and 16.6% of them had colonic affection beyond the recto-sigmoid region. Conclusion:Colonic schistosomiasis still running among symptomatizing rural inhabitants of the Egyptian Nile Delta at a rate of 12.4%. Of them66.6% had significant endoscopic colorectal lesions. This persistent transmission of schistosomiasis in the rural community of the Egyptian Nile Delta sounds the alarm for continuing governmental efforts and plans to screen the high-risk groups.

Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

Progressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in the ABCB11 gene and a c.208G> A/p.Asp70Asn variant in the ATP8B1 gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.