Grazia Di Leo

Looking for celiac disease : Diagnostic accuracy of two rapid commercial assays

BACKGROUND:Early diagnosis and treatment with gluten-free diet reduces mortality and the prevalence of associated disorders in celiac disease (CD). A simple “in the office” test of anti-transglutaminase antibodies might be of great help in first-line screening for CD.AIMS:We evaluated the sensitivity and specificity of two commercial kits based, respectively, on rapid detection of IgA-IgG anti-human-transglutaminase antibodies (anti-h-tTG) in serum and IgA anti-h-tTG antibody in one drop of whole blood. These assays were compared to a well-established enzyme-linked immunosorbent assay technique.METHODS:Serum samples were analyzed from 114 biopsy-confirmed celiacs, 120 healthy controls, 20 first-degree relatives of celiacs, and 75 diseased controls. The whole blood samples were analyzed from 51 biopsy-confirmed celiacs and 100 controls.RESULTS:The serum-based test was positive in all 114 celiacs (sensitivity 100%). Among the controls there were seven healthy blood donors, one first-degree relative, and three diseased controls who tested positive (specificity 94.9%). The blood drop-based assay testing IgA antibodies was positive in 46 of 51 (sensitivity 90.2%), and since three of the five patients testing negative had total IgA deficiency, the sensitivity value can be increased to 95.8%. All 100 controls tested negative (specificity 100%).CONCLUSIONS:The commercial kits described here produce high values of sensitivity and specificity, offering the general practitioner who suspects a possible case of CD the real possibility to look for anti-h-tTG antibodies in his own medical office during a standard visit at a satisfyingly low cost.

Bone Metabolism in Celiac Disease

OBJECTIVE To investigate the prevalence of both calcium metabolism alterations and bone defects in children with celiac disease (CD). STUDY DESIGN We studied 54 untreated patients with CD (mean age, 7 years). We compared the serum concentration of calcium, magnesium, 25(OH)vitamin D3, alkaline phosphatase, and parathyroid hormone (PTH) of patients with CD with those of 60 healthy children. Children with CD with 2 laboratory alterations underwent DEXA examination, which was evaluated after 6 months of a gluten-free diet (GFD). RESULTS The calcium and the 25(OH)vitamin D3 levels were lower in children with CD than in control subjects, and the PTH level was higher in children with CD than in control subjects (P < .001). Hyperparathyroidism was found in 29 children with CD. Twenty patients tested positive for 2 laboratory alterations, and 10 of them were osteopenic. After 6 months of GFD calcium, 25(OH)vit.D3 and PTH levels normalized, with the improvement of bone mineral density. CONCLUSIONS Calcium metabolism defects are common in untreated children with CD, and they returned to normal after GFD. A detailed, time-consuming, and expensive study of bone metabolism is not necessary in children with CD shortly exposed to gluten who follow the GFD.

Compliance with the Gluten-Free Diet: The Role of Locus of Control in Celiac Disease

OBJECTIVES To verify whether subjects with celiac disease (CD) have a different locus of control (LoC) compared with healthy subjects, and to evaluate the relationship between LoC and compliance with a prescribed gluten-free diet (GFD) and quality of life (QoL). STUDY DESIGN We studied 156 subjects on a GFD (mean age, 10 years) and 353 healthy controls (mean age, 12 years). All subjects completed tests on the Nowicki-Strickland Locus of Control Scale; the subjects with CD also completed a questionnaire to measure compliance with dietary treatment and the diseases impact on QoL. RESULTS There was no difference in LoC values between patients with CD and controls. Subjects with CD with good dietary compliance had a more internal LoC compared with those who were not compliant (P = .01). Patients who reported a satisfactory QoL had a more internal LoC compared with those who reported negative affects on QoL due to CD (P = .01). CONCLUSIONS Our study confirms the usefulness of the LoC concept for identifying those patients who might be at risk for dietary transgression. Given the enhanced, psychological, and social well being that can result from adherence to a GFD, educational and psychological support can help internalize the LoC in those patients at risk for dietary transgression.

Infliximab-related vasculitis in patients affected by ulcerative colitis.

226 is a new approach (UC). The use of ant B iological therapy for the treatment of ulcerative colitis itumor necrosis factor agents has been associated with an increased frequency of autoimmune diseases, principally cutaneous vasculitis, lupus-like syndrome, systemic lupus erythematosus, and interstitial lung disease. These adverse reactions have been described in patients with Crohn disease (1), juvenile rheumatoid arthritis (2,3), ankylosing spondylitis, and psoriatic arthritis (4). We report 4 cases of infliximabrelated vasculitis in patients affected by UC.

Hemophagocytic lymphohistiocytosis in total parenteral nutrition dependent children: Description of 5 cases and practical tips for management

Although total parenteral nutrition (TPN) is mandatory in children with intestinal failure, this treatment is not risk free. The main complications of TPN include catheter-related sepsis, thrombosis, hepatic cholestasis and cirrhosis, metabolic bone disease, and, rarely, reactive hemophagocytic lymphohistiocytosis (HLH). The pathogenesis of HLH in patients with TPN is not known, although some authors hypothesized that it can result from the activation of macrophages because of “fat overload.” We reported 5 cases of HLH that occurred in patients with 4 different underlying disorders, all requiring TPN for a long term. In our series, an underlying immunological defect or a serious infection (sepsis) can have triggered HLH. Therefore, it could be reasonable to hypothesize that besides TPN in itself, minor immune defects and infections may act together by overcoming a threshold of immune stimulation, which ultimately leads to HLH.

Intestinal-mucosa anti-transglutaminase antibody assays to test for genetic gluten intolerance.

Intestinal-mucosa anti-transglutaminase antibody assays to test for genetic gluten intolerance

Leonardo da vinci meets celiac disease

Background and Aim: Leonardo da Vincis face symmetry derives from 3 equal craniofacial segments: trichion-nasion (tn), which represents the superior third of the face, nasion-subnasal (ns) that is the medium third of the face, and subnasal-gnathion (sg) that is the length of the lower third of the face. It has been reported that adult subjects with celiac disease (CD) can be identified on the basis of a greater extension of the forehead in comparison to the medium third of the face, with a high tn/ns ratio. The aim of the present study was to investigate the correlation between facial asymmetry and CD in childhood and adulthood. Methods: We studied 126 biopsy-proven patients with CD (76 children and 50 adults) and 102 healthy controls (43 children and 59 adults). Their faces were photographed; the pictures were edited using a software program to calculate the facial segments. Results: The tn length was significantly different between adult celiac and adult controls (7.43 ± 1.46 cm vs 6.38 ± 1.73 cm, P = 0.001). The cutoff of 6.5 cm tn, derived from receiver operating characteristic curve analysis, identified 43 of 50 patients (sensitivity 86%), but 34 of 59 controls were positive (specificity 54.2%). The positive predictive value was 56%; however, the tn/ns ratio was not significantly different between celiacs and controls. Neither the tn length nor the tn/ns ratio in celiacs correlated to the time of gluten exposure. Conclusions: Adults, but not children, with celiac disease show a forehead extension significantly greater than controls, but this tests specificity appears too low to be used in the screening of CD.

Two lumens, one diagnosis

A previously healthy 2-year-old boy was admitted for recurrent episodes of enterorrhagia, with no abdominal pain, fever, constipation, or diarrhea. The physical examination was unremarkable. Results of laboratory investigations (total blood count, inflammatory indexes, clotting tests) were normal. The patient received no medication. An abdominal ultrasound scan ruled out a small-bowel intussusception.Nobleeding sourcewasdetected at esophagogastroduodenoscopy and colonoscopy, and no heterotopic gastric mucosa was identified on subsequent technetium-99 m pertechnetate scan. Despite a negative result from radionuclide imaging, there was still a high clinical suspicion of a Meckel diverticulum. Thus a wireless capsule endoscopy (WCE) was performed. The device was placed with specific endoscopic technique in the stomach with sedation because the patient was unable to swallow it. By means of WCE, the presence of an orifice about 30 cm from the ileocecal valve, appearing as a double intestinal

Refractory iron-deficiency anaemia in a child with portal cavernoma

We present the case of a 9-year-old boy affected by portal hypertension due to a portal cavernoma which developed after umbilical vein catheterisation in the neonatal period. When our patient was 3 years of age splenomegaly developed and investigations revealed portal hypertension. During the following years he developed third degree oesophageal varices, …