ABSTRACT
BACKGROUND & AIMS: Disease outcome has been found to be poorer in familial inflammatory bowel disease (IBD) than in sporadic forms, but assessment of phenotypic concordance in familial IBD provided controversial results. We assessed the concordance for disease type and phenotypic features in IBD families. METHODS: Patients with familial IBD were identified from the IBD Spanish database ENEIDA. Families in whom at least two members were in the database were selected for concordance analysis (κ index). Concordance for type of IBD [Crohn's disease (CD) vs. ulcerative colitis (UC)], as well as for disease extent, localization and behaviour, perianal disease, extraintestinal manifestations, and indicators of severe disease (i.e., need for immunosuppressors, biological agents, and surgery) for those pairs concordant for IBD type, were analyzed. RESULTS: 798 out of 11,905 IBD patients (7%) in ENEIDA had familial history of IBD. Complete data of 107 families (231 patients and 144 consanguineous pairs) were available for concordance analyses. The youngest members of the pairs were diagnosed with IBD at a significantly younger age (p<0.001) than the oldest ones. Seventy-six percent of pairs matched up for the IBD type (κ=0.58; 95%CI: 0.42-0.73, moderate concordance). There was no relevant concordance for any of the phenotypic items assessed in both diseases. CONCLUSIONS: Familial IBD is associated with diagnostic anticipation in younger individuals. Familial history does not allow predicting any phenotypic feature other than IBD type.
Subject(s)
Colitis, Ulcerative/epidemiology , Colitis, Ulcerative/genetics , Crohn Disease/epidemiology , Crohn Disease/genetics , Phenotype , Adolescent , Adult , Age of Onset , Colitis, Ulcerative/pathology , Constriction, Pathologic/epidemiology , Crohn Disease/pathology , Female , Genetic Predisposition to Disease/epidemiology , Humans , Intestinal Fistula/epidemiology , Male , Middle Aged , Pedigree , Prevalence , Spain/epidemiology , Young AdultABSTRACT
BACKGROUND: There is a lack of prospective studies evaluating the natural history of colonic ischaemia (CI). We performed such a study to evaluate the clinical presentation, outcome, and mortality as well as clinical variables associated with poor prognosis. METHODS: An open, prospective, and multicentre study was conducted in 24 Spanish hospitals serving a population of 3.5 million people. The study included only patients who met criteria for definitive or probable CI. A website (www.colitisisquemica.org) provided logistical support. RESULTS: A total of 364 patients met criteria for inclusion. CI was suspected clinically in only 24.2% of cases. The distribution of clinical patterns was as follows: reversible colopathy (26.1%), transient colitis (43.7%), gangrenous colitis (9.9%), fulminant pancolitis (2.5%), and chronic segmental colitis (17.9%). A total of 47 patients (12.9%) had an unfavorable outcome as defined by mortality and/or the need for surgery. Multivariate analysis identified the following signs as independent risk factors for an unfavorable outcome: abdominal pain without rectal bleeding [odds ratio (OR) 3.9; 95% confidence interval (CI) = 1.6-9.3], non-bloody diarrhoea (OR 10; 95% CI = 3.7-27.4), and peritoneal signs (OR 7.3; 95% CI = 2.7-19.6). Unfavorable outcomes also were more frequent in isolated right colon ischaemia (IRCI) compared with non-IRCI (40.9 vs. 10.3%, respectively; p < 0.0001). The overall mortality rate was 7.7%. CONCLUSIONS: The clinical presentation of CI is very heterogeneous, perhaps explaining why clinical suspicion of this disease is so low. The presence of IRCI, and occurrence of peritoneal signs or onset of CI as severe abdominal pain without bleeding, should alert the physician to a potentially unfavorable course.
Subject(s)
Colitis, Ischemic/pathology , Colitis, Ischemic/physiopathology , Diarrhea/pathology , Gastrointestinal Hemorrhage/etiology , Peritoneum/physiopathology , Abdominal Pain/etiology , Aged , Aged, 80 and over , Colitis, Ischemic/mortality , Colonoscopy , Defecation , Female , Gangrene , Humans , Male , Middle Aged , Prognosis , Prospective Studies , Rectum/pathology , SpainABSTRACT
Roux-en-Y gastric bypass, biliopancreatic diversion (BPD; Scopinaro's technique), and BPD with distal gastric preservation (BPDGP) are different surgical procedures, currently performed with laparoscopic assistance, successfully used as a treatment for morbid obesity. All of these modalities bear the burden of a difficult access when it comes to explore and work within the biliary tract. We present a case of acute cholangitis due to choledocholithiasis in a patient with BPDGP for morbid obesity successfully managed by laparoscopy-assisted endoscopic retrograde cholangiopancreatography through the gastric remnant.
