Carcinoma hepatocelular de apresentação precoce em criança portadora de colestase intra-hepática familiar progressiva tipo 2

Abstract

Introduction: Progressive familial intrahepatic cholestasis (PFIC) represents a heterogeneous group of monogenic disorders resulting from defects in the transport and secretion of bile acids. Advances in genetic diagnostics have improved the understanding of defects affecting bile trafficking, contributing to the clinical phenotype of cholestasis and progressive liver disease. The foundation of treatment remains supportive care, focusing on managing pruritus, malnutrition, deficiencies in fat-soluble vitamins, and complications of end-stage liver disease, as well as cancer screening—especially in cases of bile salt export pump (BSEP) deficiency. Case Report: A 5-year-old male patient, originally from Mata de São João, Bahia, with consanguineous parents, has been followed at the Complexo Hospitalar Universitário Professor Edgard Santos since 2 months of age due to cholestasis and early diagnosis of PFIC type 2. He exhibited irregular follow-up and low adherence to routine examinations. The patient progressed with abdominal pain, increased ascites, and worsening nutritional status. After a trauma episode, he presented with massive hematuria, leading to hospitalization for hemorrhagic shock. During the investigation, hepatic nodules compatible with hepatocellular carcinoma were found. He was transferred to a referral center, underwent liver transplantation, and has remained healthy to date, currently on immunosuppressive therapy. Discussion: Patients with BSEP deficiency are at particular risk for hepatocellular carcinoma (HCC) due to chronic inflammation associated with cholestasis and bile accumulation, creating an environment conducive to carcinogenesis. Conclusion: Screening for malignant liver diseases with tumor markers (including alpha-fetoprotein [AFP]) and abdominal imaging is critical for children with BSEP deficiency and is recommended starting at 12 months of age to facilitate early diagnosis and the possibility of liver transplantation in the absence of metastases.