Genetic predisposition to porto-sinusoidal vascular disorder

Area of Science:

• Hepatology
• Genetics
• Rare Diseases

Background:

• Porto-sinusoidal vascular disorder (PSVD) is a rare liver condition with unknown pathophysiological mechanisms.
• Previous reports suggest associations between PSVD and gene mutations, but a comprehensive overview is lacking.

Purpose of the Study:

• To conduct an extensive literature search for a comprehensive overview of gene mutations associated with PSVD.

Main Methods:

• Systematic literature review to identify genes and chromosomal abnormalities linked to PSVD.
• Analysis of identified genes' expression patterns and associated cellular pathways.

Main Results:

• Identified 34 genes and 1 chromosomal abnormality associated with PSVD, plus one additional TBL1XR1 mutation.
• Gene mutations were linked to syndromes with extrahepatic organ involvement or isolated PSVD.
• Predominant gene expression in immune cells suggests their significant role in PSVD development.

Conclusions:

• Gene mutations are implicated in PSVD pathogenesis, affecting either systemic syndromes or isolated liver disease.
• Immune cells may play a more critical role in PSVD development than previously recognized.
• Two potential PSVD subtypes associated with gene mutations: morphogenetic abnormalities and immune changes.