Plazminojen Aktivatör İnhibitör Mutasyonuna Bağlı Budd Chiari Sendromu ve Kronik Karaciğer Hastalığı: Bir Olgu Sunumu

Year 2015, Volume: 4 Issue: 2, 41 - 43, 01.10.2015

Yasir Furkan Çağın Yüksel Seçkin Emin Bodakçi Mahmut Şahin

Abstract

Budd-Chiari sendromu hepatik venöz kan akımının, terminal hepatik venüllerden sağ atriuma kadar herhangi bir seviyede engellenmesi sonucunda oluşan bir konjestif hepatopatidir. 35 yaşında erkek hasta karında şişlik ve vücutta sararma şikayetleriyle hastanemize başvurdu. 10 yıl öncesinde renal trombüs tespit edilen hastanın laboratuar değerleri kronik karaciğer hastalığı ile uyumlu olup dekompanse siroz gelişmişti. Viral, otoimmun ve metabolik nedenler dışlandı. Trombofili panelinde, plazminojen aktivatörü inhibitörü mutasyonu açısından 4G/4G homozigot idi. Yapılan görüntüleme tetkiklerinde hepatik, renal ven, sol ana iliak ven, eksternal iliak ve ana femoral vende yaygın trombüsler görüldü. Özofagus varisleri açısından primer proflaksiye alındıktan sonra antikoagülan tedavi başlandı. Medikal tedaviye dirençli olan hasta karaciğer transplantasyonu yapılmak üzere Genel Cerrahi Organ Nakli bölümüne devredildi. Bu olguyu, Budd Chiari sendromunu oluşturan plazminojen aktivatör inhibitör mutasyonunun dekompanse siroz yapması dışında karın bölgesinin değişik vasküler alanlarında da tromboz oluşturarak farklı bir klinik seyir göstermesi nedeniyle klinisyenlerin dikkatine sunmak istedik

Keywords

Budd Chiari sendromu, plazminojen aktivatör inhibitör mutasyonu, siroz

Budd Chiari Syndrome Induced By Plasminogen Activator Inhibitor Mutation And Chronic Liver Disease: A Case Report

Abstract

Budd-Chiari syndrome is a congestive hepatopaty that characterized by occlusion of the hepatic venous outflow tract that can be located at any level from the terminal branches of the hepatic venules to the level of the right atrium. 35-year-old male patient was admitted to our hospital with complaints of abdominal swelling, and jaundice. The laboratory values of the patient who had renal thrombosis 10 years ago, were consistent with chronic liver disease and he has advanced decompensated cirrhosis. Viral, autoimmune and metabolic causes were excluded. In thrombophilia panel, plasminogen activator inhibitor mutation was for 4G / 4G homozygous . Liver imaging demonstrated hepatic, renal, left common iliac, external iliac and femoral vein thrombosis. Anticoagulant therapy was started after primary proflaxis of esophageal varices. The patient with refractory to medical treatment was transferred to General Surgery and Organ Transplantation Department for liver transplantation. We wanted to report this case because of a different clinical course with forming of extensive vascular thrombosis in different areas of the abdomen besides Budd Chiari syndrome and decompensated cirrhosis due to plasminogen activator inhibitor mutation

Keywords

Budd Chiari Syndrome, plasminogen activator inhibitor mutation, cirrhosis

References

• Seijo S, Plessier A, Hoekstra J, Dell'Era A, Mandair D, Rifai K, et al. Good long‐term outcome of Budd‐Chiari syndrome with a step‐wise management. Hepatology. 2013; 57(5): 1962-8.
• Kim‐Schluger L. Budd–Chiari Syndrome. Mount Sinai Expert Guides: Hepatology 2014: 294-300.
• Murad SD, Plessier A, Hernandez-Guerra M, Fabris F, Eapen CE, Bahr MJ, et al. Etiology, management, and outcome of the Budd-Chiari syndrome. Ann Inter Med 2009; 151(3): 167-75.
• Strandberg L, Lawrence D, Ny T. The organization of the human‐plasminogen‐activator‐inhibitor‐1 gene. Eur J Biochem 1988; 176(3): 609-16.
• Collen D, Lijnen H, Plow EF. The fibrinolytic system in man. Crit Rev Oncol/hematol 1986; 4(3): 249-301.
• Pavri TM, Herbst A, Reddy R, Forde KA. Budd-Chiari syndrome: A single-center experience. World J Gastroenterol 2014; 20(43): 16236.
• Menon KN, Shah V, Kamath PS. The Budd–Chiari syndrome. N Engl J Med 2004; 350(6): 578-85.
• Luomala M, Elovaara I, Ukkonen M, Koivula T, Lehtimäki T. Plasminogen activator inhibitor 1 gene and risk of MS in women. Neurology 2000; 54(9): 1862-4.
• Roest M, van der Schouw YT, Banga JD, Tempelman MJ, de Groot PG, Sixma JJ, et al. Plasminogen activator inhibitor 4G polymorphism is associated with decreased risk of cerebrovascular mortality in older women. Circulation 2000; 101(1): 67-70.
• Balta G, Altay C, Gurgey A. PAI‐1 gene 4G/5G genotype: A risk factor for thrombosis in vessels of internal organs. Am J Hematol 2002; 71(2): 89-93.
• Martens P, Nevens F. Budd-Chiari syndrome. United Eur Gastroenterol J 2015; 3(6): 489-500.
• Özgür R, Maviş O, Karataş ŞO, Engin M, Gençay M, Uçar ZA. Budd-Chiari Sendromu (Olgu Sunumu). Haydarpaşa Numune Eğitim ve Araştırma Hastanesi Tıp Dergisi 48(3): 184-188.
• Janssen HL, Garcia-Pagan J-C, Elias E, Mentha G, Hadengue A, Valla D-C. Budd–Chiari syndrome: a review by an expert panel. J Hepatol 2003; 38(3): 364- 71.
• Fitsiori K, Tsitskari M, Kelekis A, Filippiadis D, Triantafyllou K, Brountzos E. Transjugular intrahepatic portosystemic shunt for the treatment of Budd–Chiari syndrome patients: results from a single center. Cardiovas İnterv Radiol 2014; 37(3): 691-7.
• Plessier A, Sibert A, Consigny Y, Hakime A, Zappa M, Denninger MH, et al. Aiming at minimal invasiveness as a therapeutic strategy for Budd‐Chiari syndrome. Hepatology 2006; 44(5): 1308-16.