Budd-Chiari-Syndrome

Structural Liver Disease

Description

Vascular liver diseases (VLD) are rare diseases characterized by a primary involvement of the hepatic veins (Budd-Chiari syndrome: BCS, ORPHA 131), the portal system (Portal vein thrombosis: PVT, ORPHA 854) with respective prevalence for BCS and PVT in Europe of 1.4 to 4 per million inhabitants and 2 to 4 per 100,000 inhabitants. Mean age at diagnosis is 38 and 42 years old for BCS and PVT respectively, and children and adolescents may be affected. Several inherited genetic factors may be implied in the etiology of PVT and BCS. Diagnosis of large vessels VLD is radiological, and when obstruction affects the microcirculation, it is mainly performed by pathology and radiology confrontation.

Anticoagulation, treatment of portal hypertension, diuretics, beta-blockers are the main principles of medical therapy. Access to an interventional radiology procedure is generally discussed (but not necessarily carried out) in expert centers. Treatment of the cause of VLD sometimes avoids any other interventional treatment. Other management such as estrogen containing contraception interruption, diet, psychologic and social support care, and patients association’s support are mandatory. Lifelong follow up is also necessary to prevent complications, such as liver cancer or evolution of haematological disease. It is important to refer patients with VLD to expert centers, their role is indeed multiple:

• To inform the patient and the professionals about liver vascular diseases thanks to specific documents
• To ensure a diagnostic and therapeutic management at all ages of life
• clinico-radiological meeting for the discussion of imaging documents for diagnostic and therapeutic purposes
• Clinical-pathological confrontation meeting therapeutic indications meetings with the liver surgery and transplantation, radiology and anatomopathology teams.

A video presents an interview from Dr. Aurélie Plessier, to overview the diseases and the organization on a national and European level for improved patient’s management.

Vascular liver diseases - An ERN RARE-LIVER training video
Vascular liver diseases - An ERN RARE-LIVER training video