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Gastrointestinal and hepatobiliary manifestations in patients with common variable immunodeficiency: In relation to three clinical cases
Manifestaciones gastrointestinales y hepatobiliares en pacientes con inmunodeficiencia común variable: a propósito de 3 casos clínicos
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array:2 [ "paginaInicial" => "110" "paginaFinal" => "111" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "César Navea, Matías Echeverría, César Romero, Emily Osse, Javier Brahm, Jaime Poniachik" "autores" => array:6 [ 0 => array:3 [ "nombre" => "César" "apellidos" => "Navea" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "Matías" "apellidos" => "Echeverría" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "César" "apellidos" => "Romero" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "Emily" "apellidos" => "Osse" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 4 => array:3 [ "nombre" => "Javier" "apellidos" => "Brahm" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 5 => array:4 [ "nombre" => "Jaime" "apellidos" => "Poniachik" "email" => array:1 [ 0 => "jaime_poniachik@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Sección de Gastroenterología, Hospital Clínico Universidad de Chile, Santiago, Chile" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Facultad de Medicina, Universidad de Chile, Santiago, Chile" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Manifestaciones gastrointestinales y hepatobiliares en pacientes con inmunodeficiencia común variable: a propósito de 3 casos clínicos" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Common variable immunodeficiency (CVID) is a primary immune condition characterised by immunoglobulin deficiency. This leads to recurrent infections and, less commonly, autoimmune or skin manifestations, as well as a higher risk of cancer, particularly gastrointestinal and haematological types.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> CVID affects one in 50,000, predominantly young people, and has no relationship with gender or race.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Diagnosis is based on low IgG, reduction of at least one of the IgM or IgA isotypes and meeting three criteria: onset of immunodeficiency after the age of two; absence of isohaemagglutinins and poor response to vaccines; and exclusion of other causes of hypogammaglobulinaemia.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">3</span></a> CVID presents with gastrointestinal symptoms in up to 60% of cases<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a> and hepatic symptoms in 10%.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">We present three cases of patients with CVID and gastrointestinal symptoms. The first was a 46-year-old male who, in the context of acute hepatitis, had a liver biopsy which showed autoimmune hepatitis (AIH). He was managed with prednisone plus azathioprine with a good response. Blood tests revealed low immunoglobulins, but no previous recurrent infections. During follow-up, CVID was diagnosed. He is managed with monthly immunoglobulin replacement with a good clinical response.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The next case is that of a 33-year-old male patient with a history of CVID and recurrent respiratory infections, on therapy with monthly doses of immunoglobulin. Blood tests over the last 12 months showed a progressive decrease in total proteins (4.6<span class="elsevierStyleHsp" style=""></span>mg/dl) and albumin (2.9<span class="elsevierStyleHsp" style=""></span>mg/dl). He had normal prealbumin, no proteinuria, negative anti-transglutaminase antibodies and no weight loss.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Upper endoscopy showed antrum erosions, and colonoscopy resected colon polyps. Biopsies of the small intestine showed chronic duodenitis with subtotal villous atrophy and colon polyps with high-grade dysplasia. Nutrition was optimised without response, and protein-losing enteropathy was suspected and confirmed with the measurement of α1-antitrypsin in stools. The patient responded well to treatment with corticosteroids.</p><p id="par0030" class="elsevierStylePara elsevierViewall">The last case is that of a 21-year-old male with a history of CVID and cyclic neutropenia, with recurrent infections, who occasionally receives doses of immunoglobulins. In the context of pruritus and abnormal liver function tests, primary sclerosing cholangitis (PSC) was diagnosed by magnetic resonance cholangiography. Secondary causes were ruled out and treatment was started with ursodeoxycholic acid, with a good response. The patient later presented with a six month history of intermittent diarrhoea with blood, but no other symptoms. Laboratory tests showed anaemia, neutropenia and normal faecal calprotectin.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Colonoscopy showed non-specific proctitis and two sigmoid polyps, which were resected. Biopsies showed non-specific chronic colitis. Immunoglobulins were prescribed monthly, improving the diarrhoea.</p><p id="par0040" class="elsevierStylePara elsevierViewall">CVID is the most common primary immunodeficiency characterised by B cell dysfunction and low antibody production, leading to a poor response to infections and vaccines. In addition, dysregulation of T cell function is described, which determines some of the autoimmune manifestations.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">The first case has AIH; autoimmunity is common in CVID and autoimmune reactions have been described in the liver.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a> The diagnosis is complex, as IgG does not rise. In this case the Hennes criteria were applied for diagnosis, with the patient scoring a total of six points. Patients with CVID have a higher incidence of liver granulomas, nodular regenerative hyperplasia, PSC, primary biliary cholangitis and cryptogenic cirrhosis.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">1–5</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">The second case had hypoalbuminaemia and mononuclear inflammatory infiltration of the duodenal mucosa. In CVID, lymphocytic infiltration in the gastrointestinal tract is common,<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">6</span></a> resembling an autoimmune enteropathy, such as coeliac disease, which causes malabsorption, and this would explain the hypoalbuminaemia.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> In these cases, anti-transglutaminase antibodies are negative and there is no response to a gluten-free diet; selected cases respond to corticosteroids.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">7</span></a> The patient had several colon polyps. The presence of colon polyps is similar to the general population and there is no increased risk of colon cancer.<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">8</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">The third patient presented with chronic diarrhoea and inflammatory involvement of the colorectal mucosa. Inflammatory bowel disease is more common in patients with CVID, but the detection of non-specific colitis is common and would explain the diarrhoea.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">9</span></a> Immunoglobulin replacement does not generally resolve these symptoms, so corticosteroid therapy is required.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">7</span></a> He also has PSC, which is more common in patients with CVID. Other gastrointestinal tract disorders include opportunistic infections that would cause chronic diarrhoea and <span class="elsevierStyleItalic">Helicobacter pylori</span> infection, associated with a 50-fold increase in the incidence of gastric cancer compared to the general population.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">9</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Last of all, gastrointestinal and hepatobiliary manifestations are common in patients with CVID, and we therefore suggest that investigations be guided by the morbidity/mortality they represent.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Navea C, Echeverría M, Romero C, Osse E, Brahm J, Poniachik J. Manifestaciones gastrointestinales y hepatobiliares en pacientes con inmunodeficiencia común variable: a propósito de 3 casos clínicos. Gastroenterol Hepatol. 2019;42:110–111.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:9 [ 0 => array:3 [ "identificador" => "bib0050" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Gastrointestinal and hepatic manifestations of primary immune deficiency diseases" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "S.Z. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 6 | 1 | 7 |
| 2024 October | 14 | 5 | 19 |
| 2024 September | 22 | 6 | 28 |
| 2024 August | 25 | 8 | 33 |
| 2024 July | 30 | 9 | 39 |
| 2024 June | 21 | 4 | 25 |
| 2024 May | 23 | 7 | 30 |
| 2024 April | 27 | 7 | 34 |
| 2024 March | 64 | 7 | 71 |
| 2024 February | 17 | 1 | 18 |
| 2024 January | 15 | 11 | 26 |
| 2023 December | 27 | 19 | 46 |
| 2023 November | 13 | 16 | 29 |
| 2023 October | 15 | 17 | 32 |
| 2023 September | 10 | 13 | 23 |
| 2023 August | 11 | 17 | 28 |
| 2023 July | 7 | 17 | 24 |
| 2023 June | 8 | 2 | 10 |
| 2023 May | 10 | 2 | 12 |
| 2023 April | 32 | 3 | 35 |
| 2023 March | 32 | 3 | 35 |
| 2023 February | 18 | 6 | 24 |
| 2023 January | 19 | 20 | 39 |
| 2022 December | 15 | 4 | 19 |
| 2022 November | 15 | 4 | 19 |
| 2022 October | 8 | 4 | 12 |
| 2022 September | 11 | 14 | 25 |
| 2022 August | 16 | 8 | 24 |
| 2022 July | 8 | 9 | 17 |
| 2022 June | 7 | 5 | 12 |
| 2022 May | 18 | 9 | 27 |
| 2022 April | 7 | 5 | 12 |
| 2022 March | 10 | 5 | 15 |
| 2022 February | 14 | 5 | 19 |
| 2022 January | 26 | 6 | 32 |
| 2021 December | 17 | 9 | 26 |
| 2021 November | 21 | 13 | 34 |
| 2021 October | 46 | 16 | 62 |
| 2021 September | 16 | 8 | 24 |
| 2021 August | 44 | 1 | 45 |
| 2021 July | 11 | 6 | 17 |
| 2021 June | 9 | 2 | 11 |
| 2021 May | 24 | 5 | 29 |
| 2021 April | 44 | 3 | 47 |
| 2021 March | 20 | 7 | 27 |
| 2021 February | 6 | 1 | 7 |
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