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Familial versus sporadic ankylosing spondylitis. Two different diseases?
A Calin1, L G Kennedy, L Edmunds
1Royal National Hospital for Rheumatic Diseases, Upper Borough Walls, Bath, United Kingdom.
Arthritis and Rheumatism
|May 1, 1993
Summary
Familial ankylosing spondylitis (AS) is milder than sporadic AS. This suggests familial cases involve more susceptibility genes, while sporadic cases have more severity genes.
Area of Science:
- Rheumatology and Genetics
- Inflammatory Arthritis Research
Background:
- Ankylosing spondylitis (AS) is a chronic inflammatory disease.
- Understanding genetic contributions to AS familial versus sporadic forms is crucial.
Purpose of the Study:
- To investigate genetic differences between familial and sporadic ankylosing spondylitis.
- To determine the role of susceptibility and severity genes in AS.
Main Methods:
- Studied 320 AS patients: 160 familial and 160 sporadic.
- Assessed disease expression using Arthritis Impact Measurement Scales (AIMS) and spinal mobility.
Main Results:
- Familial AS showed significantly milder disease across all measures.
- Spinal mobility and AIMS scores (overall, physical, social, pain) were better in familial AS.
Conclusions:
- Familial AS prevalence may be linked to "susceptibility" genes.
- Sporadic AS severity might be due to more "severity" genes than "susceptibility" genes.