RESUMO
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