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Related Experiment Videos

Familial CREST syndrome

G J McColl1, R R Buchanan

  • 1University of Melbourne, Department of Rheumatology, Austin Hospital, Australia.

The Journal of Rheumatology
|April 1, 1994
PubMed
Summary
This summary is machine-generated.

Familial occurrence of limited scleroderma (CREST syndrome) is rare. Two families showed affected relatives sharing specific human leukocyte antigen (HLA) types, suggesting a genetic link in scleroderma.

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Area of Science:

  • Immunogenetics
  • Rheumatology
  • Human Genetics

Background:

  • Familial occurrence of scleroderma, especially the limited (CREST) form, is considered uncommon.
  • Genetic factors are suspected to play a role in the etiology of autoimmune diseases like scleroderma.

Observation:

  • Two distinct family pedigrees exhibiting familial aggregation of CREST scleroderma were investigated.
  • Family 1: Two of three sisters diagnosed with CREST scleroderma shared specific Human Leukocyte Antigen (HLA) and Complement Component 4 (C4) allotypes, including DR5.
  • Family 2: A grandmother and grandson presented with CREST scleroderma, and another family member had Raynaud's phenomena.

Findings:

  • Shared MHC class II antigens, specifically HLA-DR5, were identified in affected individuals within the first family.

Related Experiment Videos

  • The unaffected sister in Family 1 did not share the identified MHC allele, further supporting a genetic association.
  • The presence of familial CREST scleroderma and Raynaud's phenomena in Family 2 suggests a potential genetic predisposition.

    • Implications:

    • The findings suggest a potential association between shared class II Major Histocompatibility Complex (MHC) antigens and the familial occurrence of scleroderma.
    • This highlights the importance of considering genetic factors and human leukocyte antigen (HLA) associations in the pathogenesis of scleroderma.
    • Further research into specific MHC alleles and their role in scleroderma susceptibility is warranted.