Diagnosis, treatment and risk factors in cholelithiasis associated with reduced phospholipids: a multicenter clinical trial for the prevention of secondary biliary cirrhosis and hepatobiliary cancer in the São Paulo state.

• Grant number: 24/22734-0
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Start date: July 01, 2025
• End date: June 30, 2028
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Fernando Gomes Romeiro
• Grantee: Priscila Portugal dos Santos
• Host Institution: Faculdade de Medicina (FMB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

Cholelithiasis is the most common biliary disease, affecting approximately 20% of the world's population. It is prevalent in obese individuals, women and elderly people, but has increased in adults aged 20 to 40 years due to lifestyle changes and genetic factors. A specific cause of symptomatic cholelithiasis in young patients is LPAC syndrome (low-phospholipid associated cholelithiasis), linked to mutations in the ABCB4 gene. The prevalence of LPAC is considered low, but patients require specific monitoring to avoid serious complications, such as biliary cirrhosis and hepatobiliary tumors. In Brazil, the prevalence of cholelithiasis has increased, but epidemiological data on LPAC and guidelines for the diagnosis and treatment of this syndrome are still lacking. Furthermore, it is not known whether obesity, overweight or other classic risk factors for cholelithiasis could contribute to cause clinical manifestations at an even younger age. The aim of this project is to analyze the prevalence of recurrent biliary lithiasis and LPAC in young patients. The study will also confirm LPAC diagnose in partnership with medical teams in São Paulo state hospitals, provide guidance on clinical treatments to prevent liver complications, and evaluate the role of obesity as a risk factor. Data collection will be performed using RStudio software with the Microdatasus package to process data from the DATASUS Hospital Information System (SIH). Data will be collected from 2018 to 2024. Young patients who needed cholecystectomy and after that also needed endoscopic retrograde cholangiopancreatography will be included, as they had cholelithiasis recurrence even without the gallbladder. After selecting the cases of interest, contact will be made with medical teams and patients to confirm the LPAC diagnosis and for follow-up through teleconsultations. This proposal is expected to identify the prevalence of cholelithiasis in young patients, LPAC prevalence and the risk factors associated with the syndrome. In addition, the study will also suggest appropriate proposals for diagnostic screening and early treatment, thus reducing complications and health costs and improving patients' quality of life. (AU)