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Autoimmune chronic active hepatitis in a family
S Hodges1, A Lobo-Yeo, P Donaldson
1Department of Child Health, Leicester Royal Infirmary.
Gut
|March 1, 1991
Summary
Multiple cases of autoimmune chronic active hepatitis occurred within a single family, suggesting a genetic link. Human Leukocyte Antigen (HLA) DR3, combined with female sex, may increase susceptibility to this liver autoimmunity.
Area of Science:
- Immunology
- Genetics
- Hepatology
Background:
- Autoimmune chronic active hepatitis (ACAH) often presents with a family history of autoimmune diseases, though typically affecting organs other than the liver.
- Familial clustering of ACAH is rare, making this case study significant for understanding disease inheritance patterns.
Purpose of the Study:
- To report the first documented instance of multiple family members developing autoimmune chronic active hepatitis.
- To investigate potential genetic factors, specifically Human Leukocyte Antigen (HLA) associations, contributing to ACAH susceptibility within a family.
Main Methods:
- Clinical observation and diagnosis of autoimmune chronic active hepatitis in affected family members.
- Human Leukocyte Antigen (HLA) typing performed on family members to identify genetic predispositions.
- Review of family history for autoimmune conditions.
Main Results:
- Three out of seven siblings were diagnosed with autoimmune chronic active hepatitis.
- One sister had coeliac disease and autoimmune thyroid disease; another showed serological markers of autoimmunity.
- HLA typing indicated that HLA-DR3, in conjunction with female sex, appeared more significant than HLA-B8 in conferring susceptibility to ACAH within this family.
Conclusions:
- This family study provides evidence for a potential genetic predisposition to autoimmune chronic active hepatitis.
- Female sex and specific HLA types, particularly HLA-DR3, may play a role in the familial occurrence of ACAH.
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