Association of Celiac Disease With Idiopathic Pulmonary Hemosiderosis; Lane Hamilton Syndrome

Introduction: Idiopathic Pulmonary Hemosiderosis (IPH) is a rare cause of alveolar hemorrhage, which is seen primarily in childhood. Celiac disease is defined as a chronic, immune-mediated enteropathy of the small intestine, caused by exposure to dietary gluten in genetically pre-disposed individuals. Association of IPH and celiac disease is known as Lane Hamilton syndrome. There are limited number of case reports of this syndrome in literature. Case Presentation: Although there were no growth and developmental delay and gastrointestinal symptoms like chronic diarrhea, chronic constipation, vomiting, abdominal bloating and pain in the two patients with IPH, they were diagnosed with Lane Hamilton Syndrome. After initiation of gluten-free diet, their IPH symptoms disappeared and hemoglobin levels were observed to return to normal. Conclusions: Even if there were no gastrointestinal symptoms in a patient with IPH, celiac disease should be investigated. These patients may benefit from gluten free diet and IPH symptoms may disappear.

Evaluation of the Correlation Between tTG-IgA Titer and Duodenal Biopsy Findings in Children With Suspected Celiac Disease

Background: Celiac disease is an immune-mediated inflammation of the small intestine caused by sensitivity to dietary gluten in genetically sensitive individuals. Objectives: In this study, we aimed to evaluate the predictive value of tissue transglutaminase (tTG) antibodies for the diagnosis of celiac disease in a pediatric population in order to determine if duodenal biopsy can be avoided. Patients and Methods: The subjects were selected among individuals with probable celiac disease, referring to a gastrointestinal clinic. After physical examinations and performing tissue transglutaminase-immunoglobulin A (tTG-IgA) tests, upper endoscopy was performed if serological titer was higher than 18 IU/mL. Therapy started according to pathologic results. Results: The sample size was calculated to be 121 subjects (69 female and 52 male subjects); the average age of subjects was 8.4 years. A significant association was found between serological titer and pathologic results; in other words, subjects with high serological titer had more positive pathologic results for celiac disease, compared to others (P < 0.001). Maximum sensitivity (65%) and specificity (65.4%) were achieved at a serological titer of 81.95 IU/ml; the calculated accuracy was lower in comparison with other studies. As the results indicated, lower antibody titer was observed in patients with failure to gain weight and higher antibody titer was reported in diabetic patients. Conclusions: As the results indicated, a single serological test (tTg-IgA test) was not sufficient for avoiding intestinal biopsy.

Evaluation of Calretinin as a New Marker in the Diagnosis of Hirschsprung Disease

Background: Hirschsprung’s disease (HD) is a congenital intestinal motility disorder with absence of ganglion cells in the colonic wall. Diagnosis of the disease is mainly based on the identification of the lack of ganglion cells in the pathology sections of the colon which is very difficult and time consuming and also needs several serial cut sections. There are many proposed markers in this field in the literature but none of them has been satisfactory. Calretinin immunohistochemistry (IHC) has been introduced as a new diagnostic marker to overcome the problems in diagnosis of this disease about 5 years ago. However there are few studies regarding the benefits and pitfalls of this marker. Objectives: The aim of this study is to determine the diagnostic value of calretinin IHC in detecting aganglionosis (HD). Patients and Methods: 27 HD patients and 28 non-Hirschsprung’s disease (NHD) patients were collected in a prospective study and calretinin IHC was performed on 31 aganglionic and 51 normoganglionic full wall thickness sections of colectomies (some of the cases had more than 1 section). The IHC slides were evaluated by two pathologists and the diagnostic value was calculated in comparison with gold standard which is the presence or absence of ganglion cells in serial Hematoxylin and Eosin (HE) stained sections of the colectomies. Results: There was great concordance between the final diagnosis of both pathologists and gold standard (k > 0.9). Calretinin immunostaining showed 100% specificity and positive predictive value and more than 90% sensitivity and negative predictive value. High agreement was present between the two pathologists (k > 0.9). Conclusions: Calretinin IHC is a very convenient, useful and valuable method to demonstrate aganglionosis in HD patients. Loss of calretinin immunostaining in lamina propria and submucosa is characteristic of HD.