Incidence of adenomatous polyps in the proximal colon as well as adenomas with advanced features has increased in the last years. This finding may have important implications regarding methods of CRC screening.
The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis. The case refers to a healthy 39-year-old Caucasian male who presented with abdominal pain and jaundice. His blood tests showed conjugated hyperbilirubinemia and elevated liver enzymes (total bilirubin 6.65 mg/dL, γ-glutamyltransferase 699 IU/L) and abdominal computed tomography revealed dilation of common bile duct and left intrahepatic ducts. Magnetic resonance cholangiopancreatography identified choledocholithiasis, retrieved by endoscopic retrograde cholangiopancreatography, after which there was a worsening of jaundice (total bilirubin 23 mg/dL), which persisted for several weeks, possibly due to ciprofloxacin toxicity. After an extensive workup including liver biopsy, the identification of two foci of hepatolithiasis on reevaluation abdominal ultrasound raised the hypothesis of LPAC syndrome and the patient was started on ursodeoxycholic acid, with remarkable improvement. Genetic testing identified the mutation c.1954A>G (p.Arg652Gly) in ABCB4 gene (homozygous) and c.1331T>C (p.Val444Ala) in ABCB11 gene (heterozygous). In conclusion, we describe the unique case of an adult male with choledocholithiasis, hepatolithiasis, and persistent conjugated hyperbilirubinemia after retrieval of stones, fulfilling the criteria for LPAC syndrome and with possible superimposed drug-induced liver injury, in whom ABCB4 and ABCB11 mutations were found, both of which had not been previously described in association with LPAC.
For the overall patient sample, no statistically significant changes across visits was observed for any SIBDQ domain or total score (all PϾ0.05); mean change from baseline to endpoint did not exceed 3% for any SIBDQ score. At endpoint, patients exhibiting recurrent UC (nϭ29) scored significantly lower than non-recurrent patients (nϭ117) on bowel symptoms, emotional function, and social function domains and total score (PϽ0.001 for all differences). CONCLUSIONS: Patients with quiescent UC receiving daily treatment with MMX mesalamine (2.4 g/day) exhibited high stability, and thus strong maintenance, in disease-specific HRQoL over the course of one year. The majority of patients remained in clinical remission following one year of this treatment regimen. Patients with clinically recurrent UC showed significantly worse HRQoL outcomes than non-recurrent patients.
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