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Celiac disease and Budd Chiari syndrome: report of a case with review of literature

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Celiac disease and Budd Chiari syndrome: report of a case with review of literature
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  1092 Case report Celiac disease and Budd Chiari syndrome: report of a casewith review of literature Rakesh Kochhar a , Ibrahim Masoodi a , Usha Dutta a , Manphool Singhal b ,Amit Miglani a , Paramjeet Singh b and Kartar Singh a We here report a case of celiac disease and Budd Chiarisyndrome. This 19-year-old boy was diagnosed to haveportal hypertension in another hospital when he haddeveloped variceal bleeding. In our hospital, he wasfound to have occlusion of all three hepatic veins as thecause of portal hypertension. On a routine endoscopy,he was found to have scalloping of duodenal folds.Suspecting celiac disease, he was investigated further.He did have positive serology for celiac disease as wellas suggestive histology. He was found to be deficient forprotein C and protein S. He was managed conservativelyand put on gluten-free diet, with which he showed clinicalimprovement. A review of literature showed that only 14previous cases of this combination were recorded andexcept for one all were from North Africa or southernEurope. Eur J Gastroenterol Hepatol  21:1092–1094  c 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins. European Journal of Gastroenterology & Hepatology 2009, 21: 1092–1094 Keywords: Budd Chiari syndrome, celiac disease, venous thrombosis Departments of a Gastroenterology and b Radiodiagnosis, Postgraduate Instituteof Medical Education and Research, Chandigarh, IndiaCorrespondence to Dr Rakesh Kochhar, MD, DM, FACG, Postgraduate Instituteof Medical Education and Research, Chandigarh 160012, IndiaTel: +91 172 2715016; fax: +91 172 2744401;e-mail: dr_kochhar@hotmail.com Received 30 November 2008 Accepted 6 January 2009 Introduction Celiac disease (CD), an autoimmune enteropathy causedby gluten in food, is known to be associated with a numberof extraintestinal manifestations. Common among thehepatic disorders linked with CD are hypertransaminase-mia, autoimmune hepatitis, secondary biliary cirrhosis, andprimary biliary cirrhosis. Budd Chiari syndrome (BCS) hasbeen reported to be associated with CD in a few casereports [1–8]. Most of these reports have srcinated fromNorth Africa and southern Europe. We here report on onesuch patient from India. Case report  A 19-year-old male was referred to our hospital withbreathlessness on exertion and fatigue for 1 year anda history of gastrointestinal bleeding. Three months ago,he had three episodes of painless hemetemesis when hewas admitted to another hospital and was found to havevariceal bleeding. He was transfused with four unitsof blood and was subjected to two sessions of varicealband ligation. He started having progressive abdominaldistension and pedal edema a month later for which hewas put on diuretics. He did not complain of jaundiceor altered sensorium. There was no history of diarrheaduring childhood and his physical growth was normal.On examination, in our hospital he had pallor, mild ic-terus, no pedal edema; his blood pressure was 124/80mmHg. Abdominal examination showed hepatomegaly (3cm below right costal margin), splenomegaly (4cm),and shifting dullness.Investigations revealed hemoglobin of 6gm/dl, total leuko-cyte count of 3200/mm 3 , platelet count of 1.75 Â 10 5  /mm 3 ,and peripheral blood film showed hypochromic micro-cytic red blood cells. Liver function tests revealed serumbilirubin of 5.4mg/dl, aspartate aminotransferase of 81IU/ml, alanine aminotransferase of 136IU/ml, alkalinephosphatase of 164KAU/dl (cut-off 30KAU), and serumalbumin levels of 2.5g/dl with globulins of 3.5g/dl. Asciticfluid analysis showed, total protein 1.3g/dl, glucose95mg/dl, leukocytes 45/mm 3 , and serum ascites-albumingradient of 2.7. His hepatitis B surface antigen and anti-hepatitis C virus antibodies were negative and serumceruloplasmin level was normal (34mg/dl); no Kayser–Fleischer ring was observed on slit lamp examination andhis autoimmune markers were negative. An ultrasoundrevealed hepatomegaly (13.6cm) with coarsened echotexture, all three hepatic veins were attenuated withcomma-shaped collaterals; intrahepatic biliary radicalswere not dilated. He had splenomegaly and splenic veinwas 14mm in diameter. There was moderate ascitesand multiple spleno-renal collaterals were present. MRIof liver was suggestive of BCS and MR venography confirmed nonvisualization of hepatic veins with patentinferior vena cava (Fig. 1a and b). Investigations of ahypercoagulable state showed functional deficiency of protein C and protein S, but he was negative for lupusanticoagulant and factor V Leyden mutation. An uppergastrointestinal endoscopy revealed three streaks of smallesophageal varices and mild portal hypertensive gastropathy;in addition, he was found to have grooving and scalloping 0954-691X  c2009 Wolters Kluwer Health | Lippincott Williams & Wilkins DOI: 10.1097/MEG.0b013e328328f47f Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.  in the second part of the duodenum. With a suspicionof CD, biopsies were taken and histological examinationof duodenal biopsy showed increased intraepitheliallymphocytes, crypt hyperplasia, and subtotal villousatrophy. His serum IgA antitissue transglutaminaseantibody titers were elevated (>300units/ml, cutoff 50units/ml) and IgA antiendomysial antibodies weredetected. His serum folate level was 23ng/ml, serumiron 27mg/dl, total transferrin iron binding capacity 214 m g/dl, serum ferritin 18 m g/ml, and urinary d-xyloseexcretion was 3.6/25g. His plasma homocysteine levelwas normal (6.07umol/l). He was started on oral anti-coagulants besides a gluten-free diet and nutritionalsupplements. Ten months later, he feels clinically betterand has gained weight. His hemoglobin has increased to12gm/dl and his total leukocyte and platelet countshave increased. His liver functions have also improvedwith serum albumin of 3.4g/dl, though alanine amino-transferase and aspartate aminotransferase are still high(96 and 114IU/ml, respectively). His ascites are con-trolled but hepatic sonography findings have remainedstatic. Discussion The case described above had CD and BCS, a rareassociation. Since the first description in 1994 [1], thereare only 14 cases of this association in the world literature[1–9] with only two reports on four patients being intheir English language [2,3]. Except for one, all thereported cases have srcinated from a geographical beltthat includes North Africa and southern Europe. Fivecases have srcinated in Tunisia [1,4,5], four in Algeria[2,6], two in Spain [3,7], and one in Mauritania [9]. Oursis the second case outside this geographical area. Onecase was reported from Argentina [8]. All but one of thereported cases including the present one had thrombosisof hepatic veins, one patient had membranous obstruc-tion of inferior vena cava [3]. Among the reported cases, the age has varied from3 months to 46 years. Only three patients were in theirfourth or fifth decade. Our patient was 19 years old. Eightof the 14 reported cases [1–9] were females. Seven of thereported cases had simultaneous presentation of CD andBCS together, whereas the other seven patients wereknown to have CD and had presented later with BCS.Our patient had come with features of portal hyperten-sion because of BCS and the first suspicion of CD camefrom endoscopic findings of scalloping of duodenal folds.Endoscopic markers such as scalloping, mosaic pattern,and reduction in folds have a very high specificity for thepresence of CD [10,11].The presentation of BCS in patients with CD has beenfulminant in two [4,5], acute/subacute in four [2,3,6,7,9]and chronic in the rest, like our patient. Outcome hasbeen variable, depending on the stage of liver disease atpresentation. Although the two patients with fulminantpresentation died [4,5], among the other 12, only one diedduring the reported follow-up. Treatment instituted hasbeen gluten-free diet and diuretics, with anticoagulantsbeing prescribed in a few patients. Two patients have beenreported to have undergone angioplasty [3,9] and oneunderwent surgical shunt [7], all with good results. Ourpatient is well 10 months after his diagnosis was made.His liver functions have improved and ascites is controlled. Fig. 1 (a) Axial T2-weighted half acquisition turbo spin echo MRI images ofliver show heterogeneous signal intensity (periphery more hyperintensethan central liver) with hypertrophic caudate lobe. The hepatic veins arenot visualized; however, inferior vena cava (IVC)is patent. Note free fluidin perihepatic and perisplenic regions. (b) Coronal contrast-enhanced MRvenogram (MRV) shows patent intrahepatic IVC with nonopacificationof hepatic veins. In addition, note splenomegaly with collaterals atsplenic hilum. Celiac disease and Budd Chiari syndrome Kochhar et al. 1093 Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.   A number of postulations have been suggested to link CD with BCS. As most of the reported patients werefrom North Africa, it was suggested that there could bea possible ethnic or genetic cause or an environmentalfactor [5]. Consumption of local herbs combined withabsorption of prothrombotic substances through thedamaged gut were postulated as possible pathogenicmechanisms [5]. In 10 of the 14 cases reported in theliterature, the etiopathogenesis was reported to beidiopathic; deficiency of one or more of anticoagulantfactors was found in two [5,8], one patient had a latentmyeloproliferative disorder [2] and one patient hadfolic acid deficiency [3]. Our patient had deficiency of protein C and protein S; he had no deficiency of folic acid and did not have hyperhomocysteinemia.Impairment of hemostasis in CD has been attributed to(i) thrombocytosis because of hyposplenism, (ii) defi-ciency of protein C and S secondary to vitamin K malabsorption, (iii) hyperhomocysteinemia secondary tofolate deficiency, (iv) presence of an associated auto-immune disease, and (v) development of lymphoma [3]. A recent report has emphasized that untreated CD may be associated with hyperhomocysteinemia caused by acombination of vitamin deficiencies and variants in theMTHFR gene [12].CD has also been reported to be associated with vascularthrombosis of vessels other than hepatic veins. Besidesthe causes enumerated above, magnesium deficiency has been incriminated in a patient of CD and splenicvein thrombosis [13–15]. It has also been suggestedthat as the CD progresses, a cascade of biological ornutritional epitopes may contribute to secondary auto-immunity, which could result in vasculitis and that inturn could explain the increased incidence of vascularevents in CD patients [16–18]. Future studies to look atthe factors contributing to vascular thrombosis should becarried out to explain the association between CD andvascular thrombosis.To conclude, we report occurrence of BCS in a patientwith CD from India, and highlight the factors possibly responsible for vascular thrombosis in CD. Acknowledgement Conflicts of interest: none declared. References 1 Kchaou AO, Ennaifer R, Belhadi N, Gargouri D, Ellourni H, Romani M, et al  .Celiac disease associated with Budd Chiari syndrome. Presse Med  2008; 37 :239–241.2 Martheau P, Cadranel JF, Messing B, Gargot D, Valla D, Rambaud JC.Association of hepatic vein obstruction and celiac disease in North Africansubjects. J Hepatol  1994; 20 :650–653.3 Martinez F, Berenguer M, Prieto M, Montes H, Rayon M, Berenguer J.Budd-Chiari syndrome caused by membranous obstruction of the inferiorvena cava associated with coeliac disease. Dig Liver Dis 2004; 36 :157–162.4 Boudhina T, Ghram N, Ben Becher S, Ayach R, Ben Ghachem K, Yedes A, et al  . Budd-Chiari syndrome and total villous atrophy in children: apropos of3 case reports. Tunis Med  1990; 68 :59–62.5 Hamdi A, Ayachi R, Saad H, Gargouri R, Zourai K, Chebbah MS. Hemiplegiarevealing Budd-Chiari syndrome associated with celiac disease in an infant. Presse Med  1990; 19 :1011–1012.6 Gelsi E, Ruitord F, Saint-Paul MC, Filippi J, Arab K, Hebuteme X. Associationof Budd-Chiari syndrome with coeliac disease in a patient native fromNorth Africa. Gastroenterol Clin Biol  2004; 28 :903–905.7 Manzano ML, Garfia C, Manzanares J, Urruzuno P, Yela C, Castel-lano G, et al  . Celiac disease and Budd-Chiari syndrome: an uncommon association. Gastroenterol Hepatol  2002; 25 :159–161.8 Aguirrebarrena G, Pulcinelli S, Giovannoni AG, Gidekel L. Celiac diseaseand Budd-Chiari syndrome: infrequent association. Rev Esp Enferm Dig 2001; 93 :611.9 EI Younsi S, Nassif T, Kuoch V, Boytchev I, Pelletier G, Buffet C. Associationof Budd-Chiari syndrome and celiac disease. Gastroenterol Clin Biol  2003; 27 :236–237.10 Bardella MT, Minoli G, Radadli F, Quantrinc M, Bianchi PA, Conte D.Reevaluation of duodenal endoscopic markers in the diagnosis of celiacdisease. Gastrointest Endosc  2000; 51 :714–716.11 Dickey W, Hughes D. Prevalence of celiac disease and its endoscopicmarkers among patients having routine upper gastrointestinal endoscopy. Am J Gastroenterol  1999; 94 :2182–2186.12 Wilcox GM, Maltia AR. Celiac sprue, hyperhomocysteinemia and MTHFRgene variants. J Clin Gastroenterol  2006; 40 :596–601.13 Durand JM, Lefevre P, Kaplanski G, Quiles N, Brenchereau A, Soubeynard J.Thromboangiitis obliterans associated with coeliac disease. J Cardiovasc Surg 1993; 1 :273–275.14 Hida M, Erreimi N, Ettair S, Mouane M, Bouchta F. Associated celiac diseaseand venous thrombosis. Arch Pediatr  2000; 7 :215–216.15 Zenjari T, Boruchowicz A, Desreumaux P, Laberenne E, Cortot A, Colombel JF.Association of coeliac disease and portal vein thrombosis. Gastroenterol Clin Biol  1995; 19 :953–954.16 Mc Rae BL, Vanderlugt CL, Del Canto MC, Miller SD. Functional evidencefor epitope spreading in the relapsing pathology of experimental autoim-mune encephalomyelitis in the Sjl/j mouse. J Exp Med  1995; 182 :75–85.17 Ventura A, Magazzu G, Greco L, The SIGEP Study Group. Duration ofexposure to gluten and risk for autoimmune disorders in patients with celiacdisease. Gastroenterology  1999; 117 :297–303.18 Shuppan D, Cioccocciopo R. Coeliac disease and secondary autoimmunity. Dig Liver Dis 2002; 34 :13–15. 1094 European Journal of Gastroenterology & Hepatology 2009, Vol 21 No 9 Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.
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