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

Abstract

Abdominal symptoms are a hallmark of Cystic fibrosis (CF). Yet, their association with morphological abnormalities of different abdominal organs is still poorly understood. Aim was therefore to relate these symptoms, assessed with a questionnaire, to findings in abdominal ultrasound (US). In 114 CF patients of all ages, findings in US considering seventeen specific parameters were related to abdominal symptoms compiled with our novel CF-specific 26-modal symptom score (CFAbd-Score). US abnormalities were detected in 95% of the patients. Most frequent findings were pancreatic lipomatosis (88%), liver steatosis (37%), hepatomegaly (31%), and thickened bowel walls (23%). Highest burden of GI-symptoms was clearly associated with pancreatic lipomatosis (p = 0.036). In detail, patients revealing this pathology reported higher rates of abdominal pain (p = 0.018), flatulence (p = 0.006), heartburn (p = 0.04), and reflux of stomach content (p = 0.006). Patients with pancreatic sufficiency had less US-findings (p = 0.033), which in turn was associated with lower rates of abdominal symptoms. The majority of them were carriers of class IV-VI or G551D mutations. Our approach gives new insights regarding the underestimated multi-organ abdominal involvement in CF. The new score can be of high interest e.g. as a complementary tool to assess the gastrointestinal effects of promising novel CF therapeutics.

Microgallbladder: Self-Remitting Acute Cholecystitis-Like Condition Unique to Patients with Cystic Fibrosis

“…Since part of the diagnostic criteria for acute cholecystitis is distension of the gallbladder more than 8 cm in length and 4 cm in width, a normal gallbladder measurement should therefore range between 3–8 cm in length and 1.5–4 cm in width [16]. In a cohort study by Dietrich et al (2002) of 72 patients with cystic fibrosis and 60 healthy subjects using the aforementioned ultrasound exclusion criteria, the incidence of microgallbladder was 25% (18/72) in patients with cystic fibrosis, versus 0% (0/60) in healthy individuals, which is in lieu of prior literature reports of microgallbladder incidence of 5–45% in patients with CF [10, 12, 15, 17, 18]. In addition to the imaging diagnostic criteria, the diagnosis of microgallbladder has to be taken in clinical context of known history of recurrent bouts of acute cholecystitis-like symptoms, due to the prevalence of microgallbladder mimickers in patients with CF and animal models with CFTR gene mutation, such as congenital gallbladder hypoplasia, gallbladder agenesis, and biliary atresia [1, 4, 19, 20].…”

“…The diagnostic criteria for microgallbladder are defined as less than 2–3 cm long and 0.5–1.5 cm wide on ultrasound evaluation [10, 15]. Since part of the diagnostic criteria for acute cholecystitis is distension of the gallbladder more than 8 cm in length and 4 cm in width, a normal gallbladder measurement should therefore range between 3–8 cm in length and 1.5–4 cm in width [16].…”

Assessing gastro-intestinal related quality of life in cystic fibrosis: Validation of PedsQL GI in children and their parents

“…This newly constructed questionnaire is also very detailed and aims to represent CF-specific abdominal symptoms. Reports show correlations with findings on abdominal ultrasound [30], significant discriminative validity and low natural variability in patients older than 6 [31]. However, there are no data on comparison with existing questionnaires and data are scarce for the age group <6.…”

Use of a mobile application for self-management of pancreatic enzyme replacement therapy is associated with improved gastro-intestinal related quality of life in children with Cystic Fibrosis

“…The present results demonstrate its responsiveness to an intervention. Likewise, the CFAbd-Score, a newly developed and validated questionnaire to evaluate GI QOL in CF, [17][18][19] was responsive to the intervention as the score improved statistically significantly.…”