Familial CRST syndrome with sicca complex

Area of Science:

• Rheumatology
• Immunology
• Genetics

Background:

• Limited understanding of the genetic and autoimmune links between connective tissue diseases.
• Previous reports on familial autoimmune conditions are scarce.

Observation:

• A mother and daughter diagnosed with the Calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome.
• Both patients presented with Sjögren's syndrome, mitochondrial antibodies, smooth muscle antibodies, and elevated serum IgM levels.
• No clinical evidence of autoimmune liver disease was observed in either patient.

Findings:

• This case study documents the first reported instance of familial co-occurrence between CREST syndrome and Sjögren's syndrome.
• It provides the second documented case of vertical (mother-to-daughter) inheritance of scleroderma, a subset of CREST syndrome.
• The presence of specific autoantibodies (mitochondrial, smooth muscle) and elevated IgM suggests a shared autoimmune pathogenesis.

Implications:

• Suggests a potential genetic predisposition or shared autoimmune pathways linking CREST syndrome and Sjögren's syndrome.
• Recommends that clinicians screen patients diagnosed with CREST syndrome for Sjögren's syndrome.
• Highlights the importance of considering autoimmune liver disease in the differential diagnosis for patients with CREST syndrome and associated autoimmune markers.