BackgroundHuman leukocyte antigen (HLA) typing in autoimmune hepatitis (AIH) has been investigated in different populations and ethnic groups, but no such data is available from Pakistan.ObjectivesThe aim of this study was to evaluate the clinical profile of autoimmune hepatitis (AIH), and determine the associated antigens and alleles by performing HLA typing.Patients and MethodsA total of 58 patients, diagnosed and treated as AIH in the last 10 years were reviewed. Diagnosis was based on International AIH Group criteria. Forty one patients underwent liver biopsy. HLA typing was performed in 44 patients and 912 controls by serological method for HLA A and B, and by PCR technique using sequence specific primers for DR alleles.ResultsOf 58 cases, 35 were females (60.3%). The median age was 14.5 (range 4-70 years), and AIH score was 14 (10-22). Thirty-six (62.0%) patients had type 1 AIH, 10 (17.2%) type 2, and the remaining 12 were seronegative with biopsy proven AIH. Forty-nine patients (84.4%) had cirrhosis. Twenty-four (41.4%) patients had ascites at the time of presentation. Among 41 patients who underwent liver biopsy, thirty-two had advance stages III and IV disease, and twenty had severe grade of inflammation. Fifteen patients had other associated autoimmune diseases and one developed hepatocellular carcinoma. HLA A2 (P = 0.036), HLA A9 (23) (P = 0.018), HLA A10 (25) (P = 0.000), HLA A19 (33) (P = 0.000), HLA B15 (63) (P = 0.007), HLA B40 (61) ( P = 0.002), HLA DR6 (P = 0.001) with its subtypes HLA-DRB1*13 (P = 0.032) and HLA-DRB1*14 (p = 0.017) were more prevalent in AIH with statistical significance than controls.ConclusionsAIH in our region presents with advanced disease affecting predominantly children and adolescents. There is a genetic association of HLA DR6 along with other alleles and antigens in our patients with AIH.

A young girl presented to us with recurrent diarrhea along with a history of 5 kg weight loss in one year. On examination, she appeared pale, while her laboratory reports showed a low hemoglobin, mean corpuscular volume (MCV) and serum albumin. Her erythrocyte sedimentation rate (ESR) was slightly raised with her iron profile suggestive of iron deficiency anemia. Viral markers, human immunodeficiency virus (HIV) serology along with thyroid profile were all unremarkable. There was no history of tuberculosis, and purified protein derivative (PPD) skin test was also negative. Computed tomography (CT) abdomen showed thickening of the terminal ileum with multiple enlarged lymph nodes. An esophagogastroduodenoscopy (EGD) along with colonoscopy was done. Multiple biopsies were taken, which were suggestive of sprue along with intestinal spirochetosis. Her tissue transglutaminase (TTG) was negative while deamidated gliadin peptide (DGP) was positive. She was kept on gluten-free diet and started on tablet metronidazole. This case shows that intestinal spirochetosis should be kept in mind in patients belonging to lower socio-economic status, who present with chronic diarrhea symptoms.

Children with HDV infection have more aggressive liver disease than HBV monoinfection irrespective of HBeAg status.

ObjectiveTo evaluate the clinical presentation, possible etiological factors, management and outcome of patients in our hospital with extrahepatic portal vein obstruction (EHPVO).Materials and MethodsThis study included patients with EHPVO followed up in our department during last 10 years. Patients of cirrhosis with EHPVO were excluded. Patients’ clinical presentation, etiology of EHPVO, management and outcome results were analyzed.ResultsOf 30 patients, 19 (67.9%) were males. Median age was 12 years. Of 14 patients who underwent liver biopsy 9 had histological activity index stage of 1/6. History of omphalitis and pulmonary tuberculosis was present in one case each. Of 22 patients with the available thrombophilia profile, nine patients had a deficiency of protein C, five patients had a deficiency of protein S, one each had reduced level S of anti-thrombin III and factor V mutation. The predominant presenting symptom was hematemesis (15 patients, 53.6%). Seven patients (25%) had splenomegaly. Three patients (10.7%) had no esophageal varices on endoscopy. Three patients underwent splenectomy due to severe pancytopenia. Endoscopic retrograde cholangipancreatography was performed in four patients (14.3%) due to portal biliopathy. Common bile duct stenting was performed in all four patients. Of them, one patient underwent splenorenal shunt operation for indication of hemobilia. One patient died at the age of 40 years, due to cholangitis and sepsis.ConclusionsResults from this study show that the anticoagulant deficiency is a common cause of EHPVO in our setup. Hematemesis is a common presenting symptom. Some of these patients have symptomatic portal biliopathy.

Esophageal involvement by mycobacterium tuberculosis is a rare entity even in the endemic regions. The common presenting complaint in esophageal tuberculosis are deglutition disorders in which patients primarily present with difficulty in swallowing. The most common site of esophageal involvement is the middle-third at the level of carina. Herein, the case of an adolescent boy is presented who had complains of dysphagia, abdominal pain along with weight loss for a month. On evaluation, he was found to have esophageal narrowing resulting in dysphagia. CT scan revealed a fistulous communication of tuberculous paraspinal abscess with the esophagus, which had resulted in dysphagia. The diagnosis of tuberculosis was made by using gold standard method of Polymerase Chain Reaction (PCR) of mycobacterium tuberculosis. He had marked symptomatic improvement within a month of starting anti tuberculous therapy (ATT) and was successfully treated with ATT for 9 months.