He was wrongly diagnosed as a case of Chronic liver disease !!!
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He was wrongly diagnosed as a case of Chronic liver disease !!!

Clinical scenario :
A 19-year-old male was referred to our hospital with breathlessness on exertion and fatigue for 1 year and a history of gastrointestinal bleeding. Three months ago, he had three episodes of painless hemetemesis when he  was admitted to another hospital and was found to have variceal bleeding. He was transfused with four units of blood and was subjected to two sessions of variceal band ligation.
He started having progressive abdominal distension and pedal edema a month later for which he was put on diuretics. He did not complain of jaundice or altered sensorium. There was no history of diarrhea during childhood and his physical growth was normal.He was labelled as a case of chronic liver disease  in that hospital.
On examination, in our hospital he had pallor, mild icterus, no pedal edema; his blood pressure was 124/ 80 mm Hg. Abdominal examination showed hepatomegaly (3 cm below right costal margin), splenomegaly (4 cm), and shifting dullness suggestive of Ascites .
Investigations revealed hemoglobin of 6 gm/dl, total leukocyte count of 3200/mm3, platelet count of 1.75 105/mm3, and peripheral blood film showed hypochromic microcytic red blood cells.
Liver function tests revealed serum bilirubin of 5.4 mg/dl, aspartate aminotransferase of 81 IU/ml, alanine aminotransferase of 136 IU/ml, alkaline phosphatase of 164KAU/dl (cut-off 30 KAU), and serum albumin levels of 2.5 g/dl with globulins of 3.5 g/dl.
Ascitic fluid analysis was wide gradient and there was  no SBP
His hepatitis B surface antigen and antihepatitis C virus antibodies were negative and serum ceruloplasmin level was normal (34 mg/dl); no Kayser–Fleischer ring was observed on slit lamp examination and his autoimmune markers were negative as well.
An ultrasound revealed hepatomegaly (13.6 cm) with coarsened echo texture, all three hepatic veins were attenuated with comma-shaped collaterals; intrahepatic biliary radicals were not dilated.
He had splenomegaly and splenic vein was 14 mm in diameter. There was moderate ascites and multiple spleno-renal collaterals were present. These findings were confirmed on MRI of liver .These features were consistent with  Budd Chairi Syndrome  . MR venography confirmed non visualization of hepatic veins with patent inferior venacava (Fig. 1a and b).

Fig 1 MRI showing non visualisation of hepatic veins


Fig 1 B MR venography showing non visualisation of hepatic veins

Investigations of a hypercoagulable state showed functional deficiency of protein C and protein S, but he was negative for lupus anticoagulant and factor V Leyden mutation. An upper gastrointestinal endoscopy revealed three streaks of small esophageal varices and mild portal hypertensive gastropathy; in addition, he was found to have grooving and scalloping

Fig 2 Endoscopy showing features of Celiac disease

in the second part of the duodenum.( Fig 2) With a suspicion of Celiac disease , biopsies were taken and histological examination of duodenal biopsy showed increased intra epithelial lymphocytes, crypt hyperplasia, and subtotal villous atrophy.
His serum IgA antitissue transglutaminase antibody titers were elevated (>300 units/ml, cutoff 50 units/ml) and IgA antiendomysial antibodies were detected. His serum folate level was 23 ng/ml, serum iron 27 mg/dl, total transferrin iron binding capacity 214 mg/dl, serum ferritin 18 mg/ml, and urinary d-xylose excretion was 3.6/25 g.
His plasma homocysteine level was normal (6.07 umol/l). He was started on oral anticoagulants besides a gluten-free diet and nutritional supplements.
Ten months later,the boy had a wide smile on his face ,  he was feeling  clinically better and had gained weight. There was no Ascites . His hemoglobin  increased to 12 gm/dl and his total leukocyte and platelet counts  increased as well.  His liver functions  also improved with serum albumin of 3.4 g/dl.

Message  :  This 19 year old boy had not chronic liver disease , instead he had  celiac disease giving rise to Budd Chiari syndrome  .He responded to gluten free diet and vitamin supplementation

       “Don t go by the label ensure proper diagnosis in every case”

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