Biopsy changed the patient 's destiny

Dear Friends. Today I want to share one story of a patient where Biopsy changed the clinical diagnosis.

My aim is to highlight role of biopsy which at times many of our  patients are reluctant in providing the consent for the procedure.

A  young male presented with history of Jaundice of 3 weeks duration and weight loss to our hospital few years back. The patient denied viral prodrome or offending drug intake. He was non alcoholic 

After a base line LFT and USG abdomen CT scan abdomen was done which revealed Cholangiocarcinoma. (Cancer of bile ducts) Surgery consultation was taken but the tumor was inoperable due to its vascular invasion. There is limited role of chemotherapy in this condition 

That evening  I had a detailed discussion with the family regarding his poor outcome. 

Ibrahim, now as this person is sadly inoperable get his fine needle aspiration (FNAC) done said the Consultant incharge

There was not an iota of suspicion in diagnosis ( obstructive Jaundice, weight loss and Tumor on CT) but to our great surprise patient turned out to have Tuberculosis of bile ducts completely treatable disease. (AFB positive, caseating granulomas) 

This U turn in diagnosis was a great delight to the treating team.

We saw him recovering on ATT gaining weight and his  Jaundice regressed and finally he lived happily thereafter.

May God keep all of you healthy. Never be reluctant in providing the consent for biopsy in your patient when asked for the procedure.

Unusual cause of pain abdomen in young

A 37-year-old female presented with a history of epigastric pain of 8 weeks duration. The pain had an intensity of 7/10 and was a burning type of pain with no reference or radiation. She stated that for the previous 2 weeks her pain was aggravated by food intake. She denied any alarming symptoms in the form of loss of appetite and weight loss. There was no history of vomiting or melena. Her clinical examination was normal 

Evaluation: Her hemoglobin levels were 14 g/dl. She had a normal leukocyte count, and liver function and renal function were normal. Serum lipase and amylase levels were not elevated. An ultrasound of her abdomen did not indicate the presence of gallstones and all other organs were normal. She underwent upper gastrointestinal (GI) endoscopy to rule out a gastric ulcer due to the pain being aggravated by food. An upper gastroscopic examination revealed normal esophagus. There was 5 cm × 4 cm bulge in the antral portion of her stomach, and the overlying mucosa was erythematosus [Figure 1]. The fundus and body of the stomach were normal. There was no evidence of duodenal ulcer or growth. A biopsy from the antral portion revealed chronic gastritis, but there was no evidence of Helicobacter pylori. 

Fig1 Endoscopy shows bulge in antrum 

She underwent endoscopic ultrasound (EUS) due to the nodular lesion. The EUS showed a round intramural (subepithelial) lesion in the antrum of the stomach. The lesion was hypoechoic and seemed to appear from the submucosa and measured 30 mm in diameter. The outer endoscopic borders were well-defined. The EUS did not show any lymph nodes in the vicinity, and the liver was normal. The differential diagnosis of gastrointestinal tumor (GIST) was considered and fine needle aspiration was performed after color Doppler imaging ruled out the presence of vascular structures along the needle track. However, the microscopic examination  showed no evidence of malignancy and immune cytochemistry for K-ras was negative for GIST. 

Fig  2 PANCREATIC REST 

Abdominal computerized tomography confirmed that apart from a submucosal lesion in the pylorus of the stomach all other organs were normal on imaging. As a result of the mass lesion in the stomach, the patient underwent partial gastrectomy determine the nature of this gastric lesion as fine needle aspiration had not clearly identified the lesion. The microscopic examination of the resected portion identified islands of pancreatic acini and ducts in the muscularis propria of the stomach. Several dilated ducts were seen extending through all the layers of the muscularis propria. There was evidence of fibrotic reaction and scant mixed inflammatory infiltrate was observed in the area. There was no evidence of malignancy and the immunocytochemistry CA19-9 was positive in the tissue while CK20 chromogranin was negative in the specimen. The overall microscopic features were consistent with pancreatic rest and GIST was ruled out.(Fig 2) The patient had an uneventful postoperative course and was discharged home after 6 days of hospitalization. She was prescribed oral proton pump inhibitors 20 mg once daily for 1-month duration only. The patient, who did not take any medication for this complaint after the initial proton pump inhibitors, is now pain-free. She has been followed up by the clinic for the last 2 years.

Further reading : 

   The  pancreatic rest, is an uncommon congenital anomaly .The incidence in autopsy series varies from 1 to  2% (range 0.55 to 13%). Such  tissue may occur throughout the gastrointestinal  tract but has a propensity to affect the stomach and the proximal small intestine. Histological features of acinar formation, development of  ducts and independent blood supply are usually present . Accordingly four types have been described ,type I having more resemblance to normal pancreatic tissue  and type IV showing only islets cells .  Although  cause of pancreatic rest remains unclear, several theories, including the ‘theory of metaplasia,’ the ‘theory of misplacement’ and the latest addition, the ‘theory of abnormalities of notch signaling’, have been proposed to explain the pathogenesis and occurrence of pancreatic heterotopia. While  majority of patients with pancreatic ectopic tissue  are asymptomatic, a variety of symptoms are attributed to this ectopic tissue . Depending upon location and bulk of the pancreatic rest the symptoms may include  , gastrointestinal bleeding, gastric outlet obstruction, gastric ulceration, pancreatitis and even obstructive jaundice, when located near Ampulla of vater  have been described .There are reports when such lesions have presented with acute perforation , what may reflect pancreatitis of stomach and duodenum . When discovered during  endoscopic  examination it is very important to differentiate these lesions from submucosal tumors and appropriate surgery may be required to confirm the lesion when results of fine needle aspiration are inconclusive .Despite the advent of novel diagnostic modalities, including endoscopic ultrasonography (EUS), computer tomography (CT) and even EUS-guided fine-needle aspiration (EUS-FNA), the differentiation from a neoplasm at times  remains a clinical challenge . When in a given case  FNAC has proved it to be  pancreatic rest and the patient is asymptomatic , such lesions can be monitored . Endoscopic features of this rare entity and a brief review is presented in this report .

He was wrongly labeled as 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 prior to this presentation, he had three episodes of painless hematemesis 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. He was labeled as a case of chronic liver disease in that hospital.
Examination
On examination, in our hospital he had pallor, mild icterus, no pedal edema; his blood pressure was 120/ 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.
The ascitic fluid analysis was wide gradient and there was no SBP
His hepatitis B surface antigen and anti-hepatitis 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 echotexture, all three hepatic veins were attenuated with comma-shaped collaterals; intrahepatic biliary radicals were not dilated.
He had splenomegaly and the 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 the liver . These features were consistent with Budd Chiari Syndrome. MR venography confirmed nonvisualization of hepatic veins with patent inferior venacava (Fig. 1a and b).

Investigations of a hypercoagulable state showed a functional deficiency of protein C and protein S, but he was negative for lupus anticoagulant and factor V Leyden mutation. 
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 in the second part of the duodenum. With suspicion of Celiac disease, biopsies were taken and histological examination of the duodenal biopsy showed increased intraepithelial lymphocytes, crypt hyperplasia, and subtotal villous atrophy.

His serum IgA anti-tissue transglutaminase antibody titers were elevated (>300 units/ml, cutoff 50 units/ml) and IgA anti endomysial 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 count increased as well. His liver functions also improved with serum albumin of 3.4 g/dl