Studies on the enteropathy associated with primary hypogammaglobulinaemia.

Abstract

Twelve patients with primary

A difficult diagnosis of coeliac disease: Repeat duodenal histology increases diagnostic yield in patients with concomitant causes of villous atrophy

“…Gastrointestinal symptoms or intestinal lesions are frequently seen (up to 50%) in patients with CVID [4,12], diarrhoea, abdominal pain, weight loss and anaemia being the most common [5][6][7][8]. In 30% of cases, gastrointestinal involvement was demonstrated to be the result of infestations with Giardia lamblia, a protozoan parasite whose presence in the small intestine of these patients is facilitated by the absence of secretory immunoglobulin (Ig) A, a hallmark in most patients with CVID.…”

“…[7,8]. In particular, Crohn's disease-like lesions [7][8][9]13] and lymphoid nodular hyperplasia [5,6,10,11,13] have been described, as well as a condition atrophy of the duodenal mucosa characterized by villous atrophy, crypt hypertrophy, and an increase of T-lymphocyte infiltrate [5][6][7][8]13,14]. This finding is similar to the histopathologic alterations found in untreated CD; however in CD patients, a variable degree of villous atrophy is usually associated with highly sensitive and specific serum antibodies, as anti-endomysial, and anti-tissue transglutaminase antibodies.…”

“…A potential pitfall of this approach could be the absence of histological recovery at a given point since mucosal healing occurs late in adult-onset CD and the differential diagnosis of refractory CD can be challenging and require multiple follow-up biopsies. [13].…”

Common variable immunodeficiency –

“…Therefore it is important, to perform a microscopic evaluation after gluten elimination diet. Only in 50% of the cases we get apparent regression of histological changes in CVID [41,43]. Atrophic changes involve not only the small intestine, but also, in half of CVID patients, the stomach, resulting in a reduction in acid secretion.…”

New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency

“…Recent studies have reported that the chronic and severe diarrhea in patients with LRBA deficiency may not improve despite intravenous Ig (IVIg) treatment (6,12). Medical therapy typically with corticosteroids (budesonide and prednisone), empiric antibiotic therapy and gluten free diets have been used commonly (13). In patients refractory to corticosteroids, treatment with immunosuppressive drugs such as azathioprine, 6-mercaptopurine, tacrolimus, mycophenolate mofetil, infliximab, and rituximab have been reported.…”