Abdominal symptoms in cystic fibrosis and their relation to genotype, history, clinical and laboratory findings

Abstract

Background & aimsAbdominal symptoms (AS) are a hallmark of the multiorgan-disease cystic fibrosis (CF). However, the abdominal involvement in CF is insufficiently understood and, compared to the pulmonary manifestation, still receives little scientific attention. Aims were to assess and quantify AS and to relate them to laboratory parameters, clinical findings, and medical history.MethodsA total of 131 patients with CF of all ages were assessed with a new CF-specific questionnaire (JenAbdomen-CF score 1.0) on abdominal pain and non-pain symptoms, disorders of appetite, eating, and bowel movements as well as symptom-related quality of life. Results were metrically dimensioned and related to abdominal manifestations, history of surgery, P. aeruginosa and S. aureus colonization, genotype, liver enzymes, antibiotic therapy, lung function, and nutritional status.ResultsAS during the preceding 3 months were reported by all of our patients. Most common were lack of appetite (130/131) and loss of taste (119/131) followed by abdominal pain (104/131), flatulence (102/131), and distention (83/131). Significantly increased AS were found in patients with history of rectal prolapse (p = 0.013), distal intestinal obstruction syndrome (p = 0.013), laparotomy (p = 0.022), meconium ileus (p = 0.037), pancreas insufficiency (p = 0.042), or small bowel resection (p = 0.048) as well as in patients who have been intermittently colonized with P. aeruginosa (p = 0.006) compared to patients without history of these events. In contrast, no statistically significant associations were found to CF-associated liver disease, chronic pathogen colonization, lung function, CF-related diabetes, and nutritional status.ConclusionAs the complex abdominal involvement in CF is still not fully understood, the assessment of the common AS is of major interest. In this regard, symptom questionnaires like the herein presented are meaningful and practical tools facilitating a wider understanding of the abdominal symptoms in CF. Furthermore, they render to evaluate possible abdominal effects of novel modulators of the underlying cystic fibrosis transmembrane (conductance) regulator (CFTR) defect.

Relation of Ultrasound Findings and Abdominal Symptoms obtained with the CFAbd-Score in Cystic Fibrosis Patients

“…The finding of lipomatosis in our PS patients indicates an advanced stage in the progression from PS to PI. On the basis of a first and preliminary version of our score (JenAbdomen-CF Score 1.0) we demonstrated that PI-CF patients report significantly more GI symptoms compared to PS-CF patients 4 . A recent study using a symptom questionnaire developed as PI-specific patient-reported outcome measure (PROM) revealed that 84% of the patients reported experiencing abdominal pain 21 .…”

“…The CFAbd-Score was further developed from our recently presented JenaAbdomen-CF Score 1.0 4 with additional 9 items concerning GI symptoms-related quality of life (QoL), thus now consisting of 26 items. QoL items were: embarrassed, physical activity limitation, reduced productivity, fatigue, reduced concentration, frustrated/restless/irritable, sad, difficulty falling asleep, and waking up at night, measured with a 6-point Likert scale from ‘not at all’ (0 pts) to ‘always’ (5 pts).…”

“…With our recently presented JenAbdomen-Score we showed that, among the complex symptoms, abdominal pain and distention, flatulence, lack of appetite and nausea, fatty stools, and diarrhea are most prominent 4 . Yet, the relation of these symptoms to morphological abnormalities of different abdominal organs is still poorly understood.…”

Postprandial changes in gastrointestinal function and transit in cystic fibrosis assessed by magnetic resonance imaging

“…It may also reflect the small sample size; since studies demonstrating a difference in gastrointestinal symptoms generally require larger sample sizes. 8,11,14,15 Our study illustrates that objective markers of gut function in CF may be more sensitive in detecting an abnormality than subjective symptom report. Further work is needed to determine whether these methods can also detect response to therapy in a smaller trial than would be needed to confirm effectiveness using a symptombased outcome.…”

Cystic Fibrosis Late Diagnosis: A Case Report

“…Although all these symptoms associated to GIT is involved as a multiorgan manifestation, they have not yet been systematically quantified. Tabori et al [10] showed that patients with a severe course of the disease or with genotypes causing a moderate to severe abdominal involvement have more GI symptoms and that these symptoms are not associated with liver disease (CFLD) or elevated Liver Function Tests (LFTs).…”