Journal of Yeungnam Medical Science

Yeungnam University College of Medicine, Yeungnam University Institute Medical Science (영남대 의대 학술지 편집위원회)
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Budd-Chiari syndrome with antiphospholipid syndrome and systemic lupus erythematosus in a patient with Klinefelter's syndrome

  • Lee, Mingee (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Huh, Jin-Young (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Ji-Hyang (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kang, Sun-myoung (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Jae-Yong (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kwon, Oh-Chan (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Eun Na (Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Jihun (Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Danbi (Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine)
  • Received : 2016.07.06
  • Accepted : 2016.08.30
  • Published : 2017.12.31
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Abstract

Klinefelter's syndrome is the most common congenital abnormality that causes primary hypogonadism. It is associated with diseases that predominantly affect women, such as systemic lupus erythematosus (SLE), and it can sometimes cause veno-occlusive disease. We experienced a case of Budd-Chiari syndrome (BCS) in a 33-year-old man with Klinefelter's syndrome presented with hematemesis and edema in both lower extremities. The clinical and laboratory findings were compatible with SLE, antiphospholipid syndrome, and BCS. To the best of our knowledge, this is the first case report to describe a simultaneous presentation of these four clinical syndromes in a single patient.

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References

  1. Ortiz-Neu C, LeRoy EC. The coincidence of Klinefelter’s syndrome and systemic lupus erythematosus. Arthritis Rheum 1969;12:241-6. https://doi.org/10.1002/art.1780120312
  2. Love PE, Santoro SA. Antiphospholipid antibodies: anticardiolipin and the lupus anticoagulant in systemic lupus erythematosus (SLE) and in non-SLE disorders. Prevalence and clinical significance. Ann Intern Med 1990;112:682-98. https://doi.org/10.7326/0003-4819-112-9-682
  3. Pelletier S, Landi B, Piette JC, Ekert P, Coutellier A, Desmoulins C, et al. Antiphospholipid syndrome as the second cause of non-tumorous Budd-Chiari syndrome. J Hepatol 1994;21:76-80. https://doi.org/10.1016/S0168-8278(94)80140-1
  4. Menon KV, Shah V, Kamath PS. The Budd-Chiari syndrome. N Engl J Med 2004;350:578-85. https://doi.org/10.1056/NEJMra020282
  5. Scofield RH, Bruner GR, Namjou B, Kimberly RP, Ramsey-Goldman R, Petri M, et al. Klinefelter's syndrome (47, XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome. Arthritis Rheum 2008;58:2511-7. https://doi.org/10.1002/art.23701
  6. Espinosa G, Font J, Garcia-Pagan JC, Tassies D, Reverter JC, Gaig C, et al. Budd-Chiari syndrome secondary to antiphospholipid syndrome: clinical and immunologic characteristics of 43 patients. Medicine (Baltimore) 2001;80:345-54. https://doi.org/10.1097/00005792-200111000-00001
  7. Campbell WA, Price WH. Venous thromboembolic disease in Klinefelter’s syndrome. Clin Genet 1981;19:275-80.
  8. Kocar IH, Yesilova Z, Ozata M, Turan M, Sengul A, Ozdemir I. The effect of testosterone replacement treatment on immunological features of patients with Klinefelter’s syndrome. Clin Exp Immunol 2000;121:448-52. https://doi.org/10.1046/j.1365-2249.2000.01329.x
  9. Igawa K, Nishioka K. Leg ulcer in Klinefelter’s syndrome. J Eur Acad Dermatol Venereol 2003;17:62-4. https://doi.org/10.1046/j.1468-3083.2003.t01-1-00511.x
  10. Bizzarro A, Valentini G, Di Martino G, DaPonte A, De Bellis A, Iacono G. Influence of testosterone therapy on clinical and immunological features of autoimmune diseases associated with Klinefelter’s syndrome. J Clin Endocrinol Metab 1987;64:32-6. https://doi.org/10.1210/jcem-64-1-32
  11. Spector TD, Ollier W, Perry LA, Silman AJ, Thompson PW, Edwards A. Free and serum testosterone levels in 276 males:a comparative study of rheumatoid arthritis, ankylosing spondylitis and healthy controls. Clin Rheumatol 1989;8:37-41. https://doi.org/10.1007/BF02031066
  12. Jimenez-Balderas FJ, Tapia-Serrano R, Fonseca ME, Arellano J, Beltran A, Yanez P, et al. High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction. Arthritis Res 2001;3:362-7. https://doi.org/10.1186/ar328