Common variable immunodeficiency (CVID) is the most frequent symptomatic primary antibody deficiency. Clinical manifestations are heterogeneous and, in addition to an increased infectious diathesis, inflammatory diseases and autoimmune disorders and malignancies can be present. A gastrointestinal involvement is common, leading, together with the increased risk of gastric tumor, to a frequent execution of endoscopic exams. The primary aim of this study was the evaluation of the possible utility of non-invasive tests to analyze the gastric function and GI inflammation in endoscopically well characterized CVID patients. The secondary aims were the description of abdominal symptoms, the identification of GI infections and quality of life evaluation. The study design included a retrospective phase and then a cross-sectional observation. Adult CVID patients who previously underwent both EGD and colonoscopy and referring to the Immunology Clinic of Treviso Ca’ Foncello Hospital were included. All the potential patients were asked to give a blood sample for lab tests and for the GastroPanel (GP); furthermore, they were invited to bring fecal samples for calprotectin dosage and for infection detection. Finally, patients answered two questionnaires about the GI symptoms and their quality of life. Among 140 patients with CVID treated at our Center, 72 were included in this study and 40 agreed to participate in the protocol. The subjects included in the study showed a high prevalence of GI disorders already in their previous clinical history (62%), of which gastroesophageal diseases were the most common (20%). Furthermore, 60% and 25% presented previous endoscopic and histological alterations at the gastroscopy or at the colonoscopy, respectively, even if not all the patients underwent biopsies during the endoscopic procedure. 91.4% of patients presented alterations in at least one of parameters of the GP, but the majority of these did not show a clinically significant picture. In 5 patients gastric atrophy was revealed at the GP: 1 was previously gastrectomised and 1 had histological atrophy at the last gastroscopy, whereas the other 3 didn’t have a previous picture of atrophy. Moreover, between the patients with an altered pattern at the GP, even if not clinically significant, 1 had a previous finding of gastric atrophy. H. pylori serology resulted positive in 11 patients, but of these only 3 had a known history of a previous infection. Calprotectin resulted increased in approximately 40% of patients, but even in this case without an association to a previous finding of endoscopic and histological alterations. Furthermore, about 30% of patients resulted positive to enteropathogenic infection, but we didn’t observe distinctive features from patients with negative results. 97.5% of patients reported abdominal symptoms during the visit: meteorism (70%), diarrhea (55%) and abdominal pain (45%) have been the most reported, with a significant impact both on the quality of life and on laboratory exams: in particular, abdominal pain and meteorism resulted significantly associated to a higher prevalence of anemia and an increase level of fecal calprotectin. This study confirmed the high frequency of GI symptoms and disorders in CVID patients, associated to a significant impact on patients’ quality of life. However, the alterations shown in the GP and the increase of calprotectin didn’t result associated to endoscopic and histological alterations in the last available endoscopic exam, but probably because these investigations had been done more than a year earlier. In these patients, also H. pylori serology seems to have a limited diagnostic role. However, our preliminary data should be confirmed in larger cohorts of patients and with prospective studies.
L’immunodeficienza comune variabile (CVID) è la più frequente immunodeficienza anticorpale primitiva sintomatica. Le manifestazioni cliniche sono eterogenee, oltre all’aumentata diatesi infettiva, si possono presentare patologie infiammatorie, autoimmuni e neoplasie. Il coinvolgimento gastrointestinale è frequente ed implica, insieme all’aumentato rischio di tumore gastrico, una frequente esecuzione di esami endoscopici. L’obiettivo primario dello studio è stato valutare la possibile utilità di test non invasivi nella valutazione della funzionalità gastrica e della flogosi GI in pazienti con CVID endoscopicamente ben caratterizzati. Gli obiettivi secondari sono stati la descrizione della sintomatologia addominale, l’identificazione di quadri infettivi GI e la valutazione della qualità della vita. Il disegno dello studio è in parte retrospettivo e in parte osservazionale trasversale. Sono stati inclusi pazienti adulti con diagnosi di CVID seguiti presso l’ambulatorio di Immunologia dell’Ospedale Ca’ Foncello già studiati sia con EGDS che con colonscopia. A tutti i pazienti che rispettavano i criteri di inclusione è stato proposto di sottoporsi ad un prelievo ematico per esami bioumorali e per il GastroPanel (GP), e sono stati invitati a portare dei campioni di feci per il dosaggio della calprotectina e la ricerca di vari microrganismi enteropatogeni. Infine i pazienti hanno risposto a due questionari riguardo ai sintomi GI e alla loro qualità della vita. Dei 140 pazienti con CVID afferenti al nostro Centro, 72 rispettavano i criteri di inclusione ed esclusione dello studio e 40 hanno accettato di partecipare al protocollo. I soggetti inclusi nello studio presentavano una elevata prevalenza di patologie GI in anamnesi (62%), i disturbi gastroesofagei sono risultati i più frequenti (20%). Il 60% e il 25% presentava delle precedenti alterazioni endoscopiche ed istologiche rispettivamente alla EGDS e alla colonscopia, ma non tutti erano stati sottoposti a biopsie durante queste indagini. Il 91.4% dei pazienti aveva alterazioni al GP, la maggior parte aveva un quadro non clinicamente significativo. In 5 pazienti è emerso dal GP un possibile quadro di atrofia gastrica: 1 era stato gastrectomizzato e 1 aveva un corrispondente quadro istologico di atrofia all’ultima gastroscopia, mentre gli altri 3 non avevano un precedente quadro di atrofia. Nei pazienti con pattern alterato non clinicamente significativo 1 aveva un precedente riscontro di atrofia gastrica. La sierologia per l’H. pylori è risultata positiva in 11 pazienti, di questi 3 avevano una storia nota di infezione. La calprotectina era aumentata in circa il 40% dei pazienti, ma senza associarsi al precedente riscontro di alterazioni endoscopiche o istologiche. Circa il 30% dei pazienti è risultato positivo per infezioni enteropatogene all’esame su feci, non sono emerse caratteristiche distintive rispetto ai pazienti risultati negativi. Il 97.5% dei pazienti lamentava sintomi addominali alla visita: il meteorismo (70%), la diarrea (55%) e il dolore addominale (45%) sono stati quelli più frequentemente riportati, con importante impatto sia sulla qualità della vita che sugli esami di laboratorio: il dolore addominale e il meteorismo sono risultati significativamente associati ad anemia e rialzo della calprotectina. Questo studio ha confermato l’elevata frequenza di sintomi e problematiche GI nei pazienti con CVID insieme ad un peggioramento significativo della qualità della vita. Le alterazioni al GP e l’aumento della calprotectina non sono risultati correlati alle alterazioni riscontrate nell’ultimo esame endoscopico disponibile, verosimilmente perché spesso queste indagini erano state eseguite più di un anno prima. Anche la sierologia per l’H. pylori sembra avere un ruolo diagnostico limitato. Questi dati preliminari andranno confermati in casistiche più ampie e con studi prospettici.
Gastroenteropatie associate a immunodeficienza comune variabile: caratterizzazione clinica, endoscopica e funzionale
MATTEI, CLAUDIA
2021/2022
Abstract
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary antibody deficiency. Clinical manifestations are heterogeneous and, in addition to an increased infectious diathesis, inflammatory diseases and autoimmune disorders and malignancies can be present. A gastrointestinal involvement is common, leading, together with the increased risk of gastric tumor, to a frequent execution of endoscopic exams. The primary aim of this study was the evaluation of the possible utility of non-invasive tests to analyze the gastric function and GI inflammation in endoscopically well characterized CVID patients. The secondary aims were the description of abdominal symptoms, the identification of GI infections and quality of life evaluation. The study design included a retrospective phase and then a cross-sectional observation. Adult CVID patients who previously underwent both EGD and colonoscopy and referring to the Immunology Clinic of Treviso Ca’ Foncello Hospital were included. All the potential patients were asked to give a blood sample for lab tests and for the GastroPanel (GP); furthermore, they were invited to bring fecal samples for calprotectin dosage and for infection detection. Finally, patients answered two questionnaires about the GI symptoms and their quality of life. Among 140 patients with CVID treated at our Center, 72 were included in this study and 40 agreed to participate in the protocol. The subjects included in the study showed a high prevalence of GI disorders already in their previous clinical history (62%), of which gastroesophageal diseases were the most common (20%). Furthermore, 60% and 25% presented previous endoscopic and histological alterations at the gastroscopy or at the colonoscopy, respectively, even if not all the patients underwent biopsies during the endoscopic procedure. 91.4% of patients presented alterations in at least one of parameters of the GP, but the majority of these did not show a clinically significant picture. In 5 patients gastric atrophy was revealed at the GP: 1 was previously gastrectomised and 1 had histological atrophy at the last gastroscopy, whereas the other 3 didn’t have a previous picture of atrophy. Moreover, between the patients with an altered pattern at the GP, even if not clinically significant, 1 had a previous finding of gastric atrophy. H. pylori serology resulted positive in 11 patients, but of these only 3 had a known history of a previous infection. Calprotectin resulted increased in approximately 40% of patients, but even in this case without an association to a previous finding of endoscopic and histological alterations. Furthermore, about 30% of patients resulted positive to enteropathogenic infection, but we didn’t observe distinctive features from patients with negative results. 97.5% of patients reported abdominal symptoms during the visit: meteorism (70%), diarrhea (55%) and abdominal pain (45%) have been the most reported, with a significant impact both on the quality of life and on laboratory exams: in particular, abdominal pain and meteorism resulted significantly associated to a higher prevalence of anemia and an increase level of fecal calprotectin. This study confirmed the high frequency of GI symptoms and disorders in CVID patients, associated to a significant impact on patients’ quality of life. However, the alterations shown in the GP and the increase of calprotectin didn’t result associated to endoscopic and histological alterations in the last available endoscopic exam, but probably because these investigations had been done more than a year earlier. In these patients, also H. pylori serology seems to have a limited diagnostic role. However, our preliminary data should be confirmed in larger cohorts of patients and with prospective studies.| File | Dimensione | Formato | |
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https://hdl.handle.net/20.500.12608/41136