Veille scientifique | Cholangite biliaire primitive (CBP), Cholangite sclérosante primitive (CSP), Hépatite auto-immune (HAI), Syndrome LPAC

CONCLUSION: Compared to thick-slab MRCP, 3D MRCP provides improved visualization of the pancreaticobiliary anatomy in children. Optimized 3D MRCP protocols may enhance diagnostic confidence in pediatric pancreaticobiliary imaging.

Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15-year-old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema. Initial workup showed low-normal ceruloplasmin, hypergammaglobulinemia, positive antinuclear antibody (ANA) and anti-smooth muscle antibody, and liver biopsy compatible with autoimmune hepatitis (AIH) (simplified AIH...

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24-h urine copper excretion, with Kayser-Fleischer (KF) rings being a supportive feature. We describe a 7-year-old girl who presented with isolated elevation of serum alanine aminotransferase (ALT), low serum ceruloplasmin, and presence...

Reynolds Syndrome should be suspected in CREST patients with persistent cholestatic liver enzymes, since delayed diagnosis allows portal hypertension and variceal bleeding to develop. Early anti-mitochondrial antibody screening and prompt ursodeoxycholic acid therapy improve outcomes, and these patients need multidisciplinary follow-up for lung and thyroid disease.

CONCLUSIONS: PCS and PCG promote intrahepatic inflammation and BEC apoptosis, suggesting that gut microbial metabolites may contribute to hepatobiliary immune injury.

KRAS driver mutations have classically been considered undruggable by direct inhibitors in non-small cell lung cancer (NSCLC) as well as other solid tumors. However, recent advances have led to the first successful direct KRAS inhibitors, beginning with the development of KRASG12C inhibitors targeting the inactive GDP-bound state of KRAS. These initial KRASG12C (OFF) inhibitors demonstrated real but modest activity in KRASG12C-mutated mNSCLC. The development of more potent optimized KRASG12C...

CONCLUSION: The study described the real-world impact of PBC in Italy from the perspective of the SSN and highlighted the burden and therapeutic needs of patients treated with UDCA.

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CONCLUSIONS: OV was not associated with clinically significant reductions in markers of PSC disease severity. Impairments in quality of life may influence patient retention in clinical trials.

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CONCLUSION: Achieving a biochemical response to UDCA is a strong and reliable predictor of improved OS in Thai PBC patients. These findings confirm favorable long-term outcomes in this population and highlight that further investigation into the optimal UDCA dosing strategy is warranted.

CONCLUSION: Identification of risk factors and hepatic co-morbidities is important to optimize the management and treatment of PBC patients.

Primary biliary cholangitis (PBC) is a chronic autoimmune cholestatic liver disease that, if untreated or inadequately treated, may progress to advanced fibrosis, cirrhosis, and liver-related complications. Although ursodeoxycholic acid (UDCA) remains the cornerstone of first-line therapy and improves transplant-free survival, an important proportion of patients show an inadequate biochemical response, and many continue to experience substantial symptoms, particularly pruritus and fatigue, with...

Cholestatic pruritus is a profoundly debilitating symptom of liver diseases that impair bile flow, notably primary biliary cholangitis. This condition severely compromises health-related quality of life (HRQoL) leading to sleep disturbances, physical discomfort, and significant psychological distress. The condition involves multiple mediators like endogenous opioids, bile acids, and the cytokine interleukin-31. Conventional therapies often provide limited efficacy, prompting the advancement of...

Primary biliary cholangitis (PBC) is a chronic autoimmune cholestatic liver disease characterized by persistent cholestasis and progressive fibrosis. Diagnosis relies on cholestatic biochemistry with AMA or PBC-specific antinuclear antibodies positivity; biopsy is reserved for atypical cases. Ursodeoxycholic acid (UDCA) remains first-line, with on treatment biochemical response predicting long-term prognosis. Symptom management-particularly for pruritus, fatigue, and sicca-is crucial to address...

Sclerosing cholangitis encompasses a spectrum of disorders, characterised by multi-level biliary stricturing. The prefix 'primary' refers to the commonest form, PSC. Although rare, incidence and prevalence are rising, which when coupled with the absence of life-prolonging therapy has resulted in PSC being one of the lead indications for liver transplantation. Herein, we present a clinically focussed overview of PSC epidemiology, natural history, and nuances surrounding monitoring and...

Autoimmune liver diseases, including autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis, are rare chronic conditions characterized by immune-mediated hepatobiliary injury. While traditionally viewed as distinct entities, they exist along a continuous spectrum, manifesting in some cases as "overlap" or "variant" syndromes. These variants are considered phenotypic variations of shared pathways rather than unique diseases. The rarity of these conditions and an...

CONCLUSIONS: ALP normalization significantly improves clinical outcomes. Two subgroups demonstrate low normalization probability and warrant early intervention: (1) patients with ALP ≥ 1.67 × ULN after 3 months and (2) those not meeting Paris II criteria by month 6.

Cholestatic liver disease disrupts bile acid homeostasis and triggers systemic metabolic, immune, and neuroimmune changes that underpin complex symptom biology. Cholestasis-associated pruritus arises from proposed interacting peripheral mechanisms (eg, bile acids, autotaxin-lysophosphatidic acid, interleukin-31, endogenous opioids) and central itch processing within defined brain networks. Fatigue similarly reflects a convergence of peripheral immune and autonomic disturbances with central...

Cholestatic liver diseases comprise a heterogeneous group of disorders characterized by impaired bile formation or flow. We outline an initial assessment anchored in clinical context and biochemical cholestasis, followed by first-line imaging with abdominal ultrasound to exclude dilatation and structural lesions. We then detail targeted second-line testing based on pretest probability: autoantibody profiling, serum immunoglobulin G4 and cholangiographic evaluation with MRCP; ERCP is reserved for...