Cholelithiasis in Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia

Banjar H,Al-Mulhim Fa,Al-Shammari A,Ghomraoui R,Ghomraoui F,Al-Eid M,Al-Ghuneim L

doi:10.36502/2020/asjpch.6155

Abstract

Introduction: Cholelithiasis has been reported in 12%-24% of Cystic Fibrosis (CF) patients, and is usually made up of cholesterol gallstones. These abnormalities are frequently asymptomatic and can include intra and extrahepatic ducts, gallbladder thickening and contraction, micro gallbladders, and cholelithiasis. Abdominal sonography is routinely used in order to detect these abnormalities. Objectives: To obtain the prevalence of gall stones (Cholelithasis) in CF patients and its relation to other clinical, laboratory, radiological, and genetic data. Methodology: A retrospective chart review as part of the CF registry data from the period 1st January 1984 – 1st June 2018. All confirmed CF the patients of all age groups that have US studies done were included in the study. Patients with positive gallstones or sludge were evaluated and discussed. Results: A total of 391 confirmed CF patients were involved. Out of them, 252 patients had an abdominal ultrasound, 7 patients (3%) had gallstones on the abdominal US, 8 patients (3%) were revealed to have sludge and 237 patients (94%) had normal gallbladders. Pancreatitis was found in 4 patients (2%). 191 patients (76%) had pancreatic insufficiency.77 patients had follow up abdominal ultrasounds and 5 patients (7%) were found to have persistent gallstones, 4 patients (5%) had persistent sludge and 68 patients (88%) remained negative for gallstones. 2 patients required cholecystectomy. Conclusion: Cholelithiasis is a common complication of CF disease; its incidence is more than the general population. Thus, we recommend that every CF patient get an ultrasonography study as part of liver disease screening to rule out any Gallbladder pathology.

Highlights

Cholelithiasis has been reported in 12%-24% of Cystic Fibrosis (CF) patients, and is usually made up of cholesterol gallstones
A total of 391 CF patients were included in our study
The Eastern region had the highest percentage of CF patients (38%), followed by the central region, which involved (25%) of the patients

Summary

Introduction

Cholelithiasis has been reported in 12%-24% of Cystic Fibrosis (CF) patients, and is usually made up of cholesterol gallstones. Cystic fibrosis (CF) is a progressive disease that affects many systems including respiratory, gastrointestinal, urogenital, and sweat glands [1,2,3]. It is the most common life-shortening autosomal recessive disease among Caucasian populations, with a frequency of 1 in 2000 to 3000 live births (3). CF is inherited as an autosomal recessive disease due to the mutation of the CF transmembrane conductance regulator (CFTR) gene [1] This causes an abnormal chloride ion transport on the apical surface of the exocrine glands epithelial cells [2]. Deletion of phenylalanine in amino acid position 508 (deltaF508) on chromosome 7 is considered the most common mutation in North America and western Europe [4], in contrast to Saudi Arabia, the most common mutation was 1548delG and I1234V [5,6]

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