Clinicopathological study of seronegative celiac disease in adults in Pakistan: a pilot study

Background: celiac disease [CD] is usually missed, if the serology is negative. We aimed to evaluate the clinicopathological characteristics of seronegative CD [SNCD] and its response to gluten-free diet [GFD] in adult patients

Methods: this observational study was carried out at the Department of Hepatogastroenterology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan from 2009 to 2015. All consecutive adult patients [>/=17 years] with features of marked villous atrophy [Marsh class>/=III] on duodenal biopsy, negative tissue transglutaminase IgA and IgG antibodies [anti-tTg IgA and IgG] and human leukocyte antigen [HLA] DQ2 or DQ8 serotypes were studied. Clinical characteristics, laboratory parameters, and response to GFD were analyzed by SPSS software version 20. Median and interquartile range [IQR] were used for summarizing quantitative data. Frequency [percentages] was used for qualitative data

Results: a total of 12 patients with median age of 31.5 years [IQR: 19.75-46.75 years], of whom five [41.6%] were men were studied. The presenting complaints were: weight loss in 11 [91.6%] and abdominal pain in 9 [75%] patients. Anemia was observed in 10 [83.3%] patients with median hemoglobin of 9.5 g/dL [IQR: 6.3-13.25 g/dL]. Median alanine transaminase [ALT] was 21 U/L [IQR: 13-27 U/L] and median albumin was 3 g/dL [IQR: 2.4-3.6 g/dL]. Anti-tTg IgA and IgG were negative in all patients. HLA DQ serotyping showed homozygous DQ2 and DQ8 in four and one patients, respectively; while heterozygous DQ2 and DQ8 in five and two patients, respectively. All patients were advised to receive GFD. Nine [75%] patients showed complete clinical response. Two patients were non-compliant and one with non-alcoholic fatty liver disease [NAFLD]-related cirrhosis had partial clinical response. Out of the nine responders, two patients showed response within 6 months while the remaining showed improvement over a year period

Conclusion: the diagnosis of SNCD is rewarding as it responds favorably to GFD in most patients. HLA serology provides an important tool for diagnosis of this entity

Coexistence of celiac and crohn's disease in a patient presenting with chronic diarrhea

Celiac disease [CD] is one of the most common causes of malabsorption. It is an immune-mediated disease manifested by diarrhea, steatorrhea, flatulence, and weight loss, caused by ingestion of gluten containing diets. The disease has typical small intestinal biopsy features of villous atrophy, crypt hyperplasia, and intense inflammation of the mucosal layer. The disease is rarely associated with Crohn's disease [CRD]. Studies on the impact of CD on the natural history of inflammatory bowel disease [IBD] have shown that the natural course of CRD is not influenced by coexistent CD. We report a case of 54-year female who presented with diarrhea and weight loss. On initial evaluation, CD was diagnosed, and responded to gluten-free diet [GFD]. Later on, she developed joint pains and her diarrhea recurred. Further evaluation revealed coexistence of CRD. The treatment of CRD was also initiated and this led to marked improvement in the symptoms of the patient

Ascites in patients on maintenance hemodialysis: causes, characteristics and predicting factors

Objective: To describe the causes, characteristics and factors associated with ascites in patients on maintenance hemodialysis

Study Design: Observational study

Place and Duration of Study: Department of Hepatogastroenterology, Sindh Institute of Urology and Transplantation, Karachi, from November 2007 to November 2014

Methodology: All patients on maintenance hemodialysis and age > 16 years with ascites were included. Frequencies and percentages were computed for different categorical variables. Chi-square or Fischer exact test were used to identify factors associated with ascites like frequency of hemodialysis, serum albumin and cardiac ejection fraction [EF]. Odds ratios were calculated for associated factors

Results: Ninety patients were included in this study; 55.5% were males. Median age was 33 years. Cause of ascites was nephrogenic in 77.8%, cardiac failure in 16.7%, hypothyroidism in 6.67%, liver cirrhosis in 4.4%, abdominal tuberculosis in 2.2%, and peritoneal carcinomatosis in 1.1% patients. The ascites was severe in 53.3% patients and severity was associated with serum albumin < 2.8 gm/dL [p=0.007] and cardiac EF < 40% [p=0.028]. The ascites was low serum ascites albumin gradient [SAAG], high protein type [LSHP] in 60% patients and associated with hemorrhage [p=0.040]. High SAAG, high protein [HSHP] ascites, found in 33.3%, was associated with cardiac EF < 40% [p=0.005] and portal hypertension [p=0.048]. High SAAG, low protein [HSLP] ascites, seen in 6.7%, was associated with portal hypertension [p=0.006]

Conclusion: The commonest cause of ascites in hemodialysis dependent patients is nephrogenic followed by cardiac failure. Low serum albumin and low cardiac EF predispose to severe forms of ascites

Clinical presentation and predictors of survival in patients with Budd Chiari syndrome: experience from a tertiary care hospital in Pakistan

To determine aetiology, clinical presentation and predictors of survival in Budd Chiari Syndrome patients. The prospective observational study based on non-probability convenient sampling was conducted at the Sindh Institute of Urology and Transplantation [SIUT], Karachi, and comprised Budd Chiari Syndrome patients between January 2004 and December 2013. The patients were evaluated for onset of symptoms, causes, mode of presentation and predictors of survival. SPSS 20 was used for statistical analysis. Of the 25 patients, 16[64%] were males, and 16[64%] belonged to the paediatric age group. Overall age range was 2-50 years with a mean of 14.7 +/- 12.41 years. Presentation was chronic in 14[56%] patients, acute in 10[40%] and acute on chronic in 1[4%]. Commonest morphological abnormality involved was hepatic veins alone in 14[56%]. Probable aetiologies were hypercoagulable states in 21[84%] patients, infections in 2[8%] and malignancy in 1[4%]. Among hypercoagulable states, protein C deficiency was the commonest, affecting 9[36%] patients. Seven [28%] patients died; acute 4[16%] and chronic 3[12%]. Causes of death included sepsis 4[16%], fulminant hepatic failure 1[4%], gastrointestinal bleeding 1[4%], and bleeding from liver biopsy site 1[4%]. Poor survival was associated with bilirubin >5mg/dl [p<0.031], serum alanine transaminase >40U/L [p<0.005], serum albumin <2.8 g/dl [p<0.008], Child-Turcotte-Pugh score >10 [p<0.001] and absence of varices [p<0.025]. Cox regression analysis failed to show any significant independent predictors of survival. Budd Chiari Syndrome affected young patients more frequently and was associated with high mortality. The commonest aetiology was hypercoagulable state. Survival was poor in patients with decompensated liver disease and those with an acute clinical presentation

Ampullary ganglioneuroma: an unusual feature of neurofibromatosis type 1 - A case report

The case of a 65 year old man is presented. He had a history of dyspepsia and was diagnosed as neurofibromatosis clinically. Upper G.I. endoscopy showed thickened folds in duodenum. A polyp was seen at the junction of D1 and D2 adjacent to the ampulla. Duodenal biopsy results were suggestive of ganglioneuroma

Biliary atresia with situs inversus: an experience shared

Biliary Atresia [BA] is a well-known entity and can present with multiple congenital anomalies. BA is one of the most common conditions in which pediatric liver transplant is performed. Identification of Biliary atresia with situs inversus [SI] has not been documented in Pakistan. We report two such cases. First was an eighty-day-old baby boy, icteric from day of birth. On further evaluation had dextrocardia, SI, gross hydronephrosis [HN] of left kidney and stasis at pelvi ureteric junction [PUJ]. Liver biopsy showed biliary cirrhosis secondary to extra hepatic biliary atresia [EHBA]. The second baby presented at two months of age. Ultrasound abdomen and hepatobiliary scintigraphy confirmed liver in left hypochondrium [SI] and findings suggestive of BA. Echocardiography confirmed SI with mesocardia. In this paper we have described the association of BA with SI in two patients presenting at the pediatric Gastroenterology, hepatology and nutrition unit