[Primitive Budd-Chiari syndrome: a diagnostic and therapeutic challenge]

Area of Science:

• Hepatology
• Vascular Medicine
• Internal Medicine

Background:

• Primary Budd-Chiari syndrome is a rare hepatopathy defined by hepatic venous outflow obstruction.
• It specifically excludes upstream sinusoidal obstruction syndrome and downstream cardiac causes.
• The condition primarily results from endoluminal venous thrombosis or its fibrotic sequelae.

Purpose of the Study:

• To provide a comprehensive overview of primary Budd-Chiari syndrome.
• To highlight diagnostic modalities and identified etiologies.
• To discuss current and emerging therapeutic strategies.

Main Methods:

• Diagnosis relies heavily on Doppler ultrasound and magnetic resonance imaging (MRI).
• Identification of underlying causes includes myeloproliferative disorders, antiphospholipid syndrome, paroxysmal nocturnal hemoglobinuria, and inherited thrombotic conditions.
• Treatment approaches are guided by algorithms, incorporating symptomatic and etiologic management.

Main Results:

• Clinical presentations vary widely, ranging from asymptomatic cases to acute, subacute, or chronic forms.
• The syndrome predominantly affects young adults.
• Recent therapeutic advancements show potential for significant prognosis improvement.

Conclusions:

• Primary Budd-Chiari syndrome requires prompt diagnosis using advanced imaging techniques.
• Identifying and managing associated thrombotic risk factors is crucial.
• Advances in treatment offer improved outcomes for patients with this rare liver condition.