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. 2023 Aug 10;31(3):196-202.
doi: 10.1159/000531396. eCollection 2024 Jun.

Small Bowel Villous Atrophy in a Young Patient: A Challenging Diagnosis

João Correia  1 , Andreia Freitas  2 , António Marinho  3 , Ana Ponte  1 , Edgar Afecto  1 , Manuela Estevinho  1
Affiliations

Small Bowel Villous Atrophy in a Young Patient: A Challenging Diagnosis

João Correia et al. GE Port J Gastroenterol. .

Abstract
in English, Portuguese

Common variable immunodeficiency enteropathy is a sprue-like disease, which may manifest as a severe malabsorption syndrome with nutritional deficits and cachexia. The authors report a case of a 33-year-old Afghan man, who presented to the emergency department due to chronic watery diarrhea and severe malnourishment. He had been previously misdiagnosed with celiac disease in his early adulthood; however, this was based on inconclusive findings. After a thorough diagnostic workup, the final diagnosis of common variable immunodeficiency enteropathy with symptomatic norovirus infection of the gut was obtained during his prolonged hospitalization. A slow but progressive improvement was observed with immunoglobulin replacement therapy, corticotherapy, and ribavirin treatment. This is a noteworthy case of a rare malabsorption disorder, and it reviews important aspects concerning the differential diagnosis of small bowel villous atrophy of unknown etiology, as well as gastrointestinal manifestations of common variable immunodeficiency disorder.

A Enteropatia associada à Imunodeficiência Comum Variável é uma entidade com características clínicas e endoscópicas semelhantes à doença celíaca. Por vezes apresenta-se como um síndrome de malabsorção, levando a défices nutricionais e caquexia severa. Os autores relatam o caso de um homem de 33 anos de idade de naturalidade afegã, que recorreu ao serviço de urgência por um quadro de diarreia aquosa crónica e desnutrição severa. O doente teria sido diagnosticado erroneamente com doença celíaca no início da vida adulta, com bases em dados clínicos inconclusivos. Após um estudo exaustivo durante um internamento prolongado, o doente foi diagnosticado com uma Enteropatia associada à Imunodeficiência Comum Variável com sobreinfeção por Norovirus. Foi observada uma melhoria lenta e progressiva com instituição de terapêutica substitutiva com imunoglobulina, corticoterapia e ribavirina. Este caso retrata uma causa rara de malabsorção, abordando pontos essenciais no diagnóstico diferencial da atrofia vilositária do intestinal delgado, bem como das manifestações gastrointestinais da Imunodeficiência Comum Variável.

Keywords: Celiac disease; Common variable immunodeficiency; Small bowel.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1.
Fig. 1.
Esophagogastroduodenoscopy, revealing loss of duodenal folds and a granular appearance of the duodenal mucosa. EGD, esophagogastroduodenoscopy.
Fig. 2.
Fig. 2.
Capsule endoscopy frame, revealing diffuse villous atrophy throughout the small bowel.
Fig. 3.
Fig. 3.
Longitudinal course of the diagnostic workup. HypoIg, hypogammaglobulinemia; EGD, esophagogastroduodenoscopy; SBCE, small bowel capsule endoscopy; CVID, common variable immunodeficiency disorder; PCR, polymerase chain reaction.
See this image and copyright information in PMC

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