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Waldenström's macroglobulinemia and autoimmune disease in a family

W A Blattner, J E Garber, D L Mann

    Annals of Internal Medicine
    |December 1, 1980
    PubMed

    Insights

    A family study identified Waldenström's macroglobulinemia and autoimmune disorders. A specific HLA haplotype (A2, B8, DRw3) was linked to these conditions, suggesting a shared genetic predisposition.

    Area of Science:

    • Immunogenetics
    • Hematology
    • Autoimmunity

    Background:

    • Waldenström's macroglobulinemia is a rare lymphoproliferative disorder.
    • Autoimmune disorders have complex genetic and environmental etiologies.
    • Familial clustering of certain diseases can indicate shared genetic factors.

    Observation:

    • A father and three offspring were diagnosed with Waldenström's macroglobulinemia.
    • Excessive clinical and subclinical autoimmune disorders were noted within the family.
    • A specific HLA haplotype (A2, B8, DRw3) was present in all Waldenström's macroglobulinemia patients and most family members with autoimmune issues.

    Findings:

    • A lod score of 4.86 strongly suggests linkage between the HLA complex and a gene predisposing to lymphoproliferative and autoimmune disorders.
    • The identified HLA haplotype was associated with B-cell alloantigens Ia-172 and 350.
    • These alloantigens have previously been linked to sicca syndrome, a lymphoma-prone condition.

    Implications:

    • This study provides evidence for a shared genetic susceptibility locus within the HLA complex for both Waldenström's macroglobulinemia and autoimmune diseases.
    • Understanding this genetic link may improve diagnostic strategies and risk assessment for affected families.
    • Further research into the specific genes within the HLA complex could reveal novel therapeutic targets.

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