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Horm Metab Res 2004; 36(2): 97-100
DOI: 10.1055/s-2004-814218
Original Clinical
© Georg Thieme Verlag Stuttgart · New York

Autoimmune Diabetes mellitus, Hodgkin’s Disease and Graves’ Ophthalmopathy in a Patient with 8.1 Ancestral Haplotype

E.  De Carlo1 , G.  Tamagno1 , C.  Martini1 , P.  Maffei1 , D.  Rubello2 , M.  Luca3 , N.  Sicolo1
  • 1Department of Medical and Surgical Sciences, Clinica Medica III, University of Padova, Italy
  • 2Second Nuclear Medicine Service, Padova Hospital, Italy
  • 3Immunohematology and Transfusion Service, Padova Hospital, Italy
Further Information

Publication History

Received 6 May 2003

Accepted after revision 28 August 2003

Publication Date:
05 March 2004 (online)

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Abstract

In this report, we describe the case of a 43-year-old woman affected by type 1 diabetes mellitus diagnosed 8 years before, who developed Graves’ disease 2 years after chemotherapy and mantle radiotherapy treatment for Hodgkin’s disease. Bilateral Graves’ ophthalmopathy appeared four months before our observations. Intravenous methyl-prednisolone therapy was started, but was interrupted due to severe metabolic failure. Autoantibodies (anti-islet cells, anti-thyroid, thyroid-stimulating, non-organ-specific) were positive. Since the clinical picture suggested a genetic immunological ground predisposing to autoimmunity, we evaluated her HLA haplotype. Genomic typing of the patient permitted identification of the 8.1 ancestral haplotype, a Caucasoid haplotype unique in its association with many immunopathological diseases. Moreover, we also observed a haplotype unusual in Caucasians, trans DRB1*1101, DQA1*0103, DQB1*0603. To our knowledge, HLA-related genetic risk of developing thyroid autoimmunity after neck irradiation has never been studied. Although we cannot confirm a direct association between the 8.1 ancestral haplotype or DRB1*1101, DQA1*0103, DQB1*0603 and the diseases described, we suggest considering immunological parameters and HLA typing in candidate patients for mantle radiation therapy for Hodgkin’s disease or other tumors. HLA haplotype determination could be useful in identifying the patients at raised risk of developing autoimmune diseases after irradiation, thus permitting a more appropriate follow-up schedule.

Key words

Graves’ disease - HLA - Autoimmune diseases - Hodgkin’s disease - Mantle irradiation - 8.1 Ancestral Haplotype - Ophthalmopathy

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E. De Carlo

Clinica Medica III

Via N. Giustiniani 2 · 35128 Padova · Italy

Phone: + 39 (49) 821 87 45 ·

Fax: + 39 (49) 821 87 44

Email: euge.decarlo@tiscalinet.it

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