[RACAND syndrome associated with primary biliary cirrhosis]

Area of Science:

• Rheumatology and Immunology
• Vascular Biology
• Hepatology

Background:

• The recently identified RACAND syndrome involves Raynaud's phenomenon, anticentromere antibodies, and digital necrosis without sclerosis.
• The association between RACAND syndrome and primary biliary cirrhosis (PBC) has not been previously documented.

Observation:

• A 57-year-old woman presented with recurrent digital necrosis, high anticentromere antibody titers, and no digital sclerosis.
• Liver biopsy revealed histological evidence of primary biliary cirrhosis.
• Despite treatment, the patient required toe amputation.

Findings:

• This case presents the first reported instance of RACAND syndrome associated with primary biliary cirrhosis.
• Anticentromere antibodies may exhibit direct toxicity to vascular endothelial cells, leading to vasculopathy.
• The co-occurrence suggests a potential autoimmune etiology affecting both vascular and ductular endothelial cells.

Implications:

• This association challenges the current nosology of RACAND syndrome and PBC.
• Further research is warranted to elucidate the pathomechanisms linking anticentromere antibodies, vasculopathy, and primary biliary cirrhosis.
• Understanding this link may lead to novel therapeutic strategies for autoimmune-mediated vascular and liver diseases.