1. AN INTERESTING CASE OF CONNECTIVE TISSUE DISORDER Dr Teffy Jose M4 Unit Prof. Dr. G Elangovan’s unit

2. 28 yr old girl Eshwari, from Sowcarpet , who was on treatment as a case of Rheumatoid arthritis for past 5 yrs presented with H/o pain upper abdomen – 2 yrs ; ↑- 2 mths H/o vomiting on and off – 6 mths H/o difficulty in swallowing – 6 mths

3. C/o pain upper abdomen – on & off for 2 yrs ; ↑ 2 mths – burning type, ↑ with food intake , relieved by medication C/o vomiting on & off for past 6 mths , contains ingested food , sometimes undigested, non bilious; no h/o haematemesis C/o difficulty in swallowing – 6 mths ; solid > liquid

4. H/o odynophagia + H/o heart burn+ H/o loss of appetite+ H/o loss of weight+ H/o on & off low grade fever+ H/o on & off oral ulcers + H/o lower back ache and pain upper most part of left thigh+ No h/o haematemesis/malena No h/s/o jaundice No h/o altered bowel habits Urine output normal No other significant history

7. Pallor++ glossitis + oral ulcers+ microstomia+ Thickening of skin face and hands + multiple deformities + of small joints of B/L hands and feet No icterus/cyanosis/clubbing/lympadenopathy / pedal edema

9. CVS – S1 S2 + RS- NVBS + B/L P/A – scaphoid - mild epigastric tenderness + - no mass palpable - no organomegaly - BS + CNS – WNL

11. Connective tissue work up

12. Initial treatment was started with InjPantoprazole 40 mg IV Bd, antacid syrup and anti emetics and adequate hydration given MGE opinion sought – RA on NSAID s - ? Drug induced gastropathy ? Esophageal candidiasis Advised to continue same line of management & OGD was fixed

13. Upper GIscopy Polypoidal growth + involving distal esophagus at 32cm, OG junction ,fundus;biopsy taken Food stasis in fundus+ Deformed duodenal bulb+ D2 entered

14. HPE Squamousepitheilum with submucosal infiltrates of neoplastic cells round to polyhedral,dark staining pleomorphicnucleiarranged in sheets,vague glandular formation, some of them with intracytoplasmicmucin giving signet ring cell appearance IMP – poorly differentiated adenocarcinoma

15. CT thorax & CT abdomen

18. Wall thickness in OG junction( OG junction growth) extending into the fundus of the stomach- fat plane between the lesion and head of pancreas not maintained Osteolytic sacral lesion with bone expansion ? possibly secondaries

20. MRI LS spine with screening of whole spine and brain

22. 8.4*7.8*4.36 cm expansilelytic lesion which ics T1 hypointense is seen involving the entire sacrum; lesion is T2 hyperintense with cystic areas; mass is seen extending into the left sacroiliac joint – S/o metastasis in sacrum

23. Final diagnosis : Mixed connective tissue disorder with poorly differentiated adenocarcinoma OG junction advanced stage ( 1v ) with sacral metastasis

24. SGE opinion – advised supportive management , palliative treatment with chemotherapy/radiotherapy Medical oncology opinion – chemotherapy started with 5 FU weekly once Radiotherapy- continue chemotherapy, review sos

25. Supportive treatment given with IV fluids, IV glucose, IV aminoacid infusion , intralipidemulsions,multivitamininfusions,packed cell transfusion & pain relief During a course of 3 months patient progressed to almost total dysphagia, became severely cachexic – pt was not co operative for Ryles tube insertion ;endoscopic dilatation was done ; - pt succumbed to her illness

26. Esophageal dysfunction in MCTD MCTD – overlap of features with SSc,SLE,polymyositis & RA, but without meeting specific criteria for any of them; - associated with high circulating titres of anti-U1 RNP. The most common abdominal problem in MCTD is disordered motility of the upper GI tract . Esophageal involvement - in upto 85% of the patients Dysphagia(38%) and heartburn(48%) being the commonest GI symptoms

27. The pattern of esophageal dysfunction is similar to that seen in systemic sclerosis ; abnormal UES function may be seen –a distinguishing feature of MCTD. Replacement of smooth muscle layers of the esophagus by fibrous tissue results in diminshed distal peristalsis and reduced LES competency. However extensive esophageal damage including severe esophageal reflux, may be present even in the absence of symptoms.

29. Gastroesophageal reflux -> GERD is contributed by LES incompetence Diminshed clearance of refluxed acid back into stomach due to impaired esophageal peristalsis Hiatus hernia which occurs in %) % of the patients due todilatation and shortening of esophagus

31. Complications – Chronic reflux esophagitis Candida esophagitis due to poor esophageal emptying, immunosuppresants and acid suppression Stricture formation Upper GI hemorrhage( esophageal ulcer , telengiectasia ) 5. Barrett’s metaplasia and increased risk of adenocarcinoma- seen in 1/3 rd of the patients with scleroderma

33. INV – Esophageal manometry – Gold std – detects ineffective peristalsis to aperistalsis ; low to absent LES pressure 2.Endoscopy – reflux esophagitis (60%); peptic strictures ( 25%) , Barrett’s , carcinoma

34. Management - high dose PPI s - periodic dilatation of esophageal strictures

35. A pt with a prolonged course of progressive systemic sclerosis marked by esophageal & bowel complications developed carcinoma esophagus presenting as dysphagia. It is postulated that the carcinoma resulted from long standing stasis ,irritation & scarring rather than being directly related to sclerotic process itself. Gastrointestinal endoscopy-vol19,issue9,may1973 R Bruce Johnson MD;Lee S Monroe MD

36. Outcomes of Barrett’s oesophagus related to systemic sclerosis: a 3-year EULAR Scleroderma Trials and Research prospective follow-up study Julien Wipff1, Romain Coriat2, Michela Masciocchi3, Paola Caramaschi4, Chris T. Derk5, Eric Hachulla6, Valeria Riccieri7, Oxford journal rheumatology march 16,2011 - results, in accordance with previous published data suggesting an increased risk of EAC or cardialadenocarcinoma in SSc, highlight the need for accurate follow-up of BE SSc patients at risk of developingadenocarcinoma.

37. Farr radioimmunoassay A comparison between the Farr RIA and new automated fluorescence immunoassay for the detection of autoantibodies against ds DNA in serum Ann Rheum Dis 2002 As the Farr assay includes ammonium sulphate precipitation at high salt concentrations, a condition that dissociates dsDNA_antidsDNA complexes of low avidity, this assay detects only antibodies with high avidity. High avidity anti ds DNA antibodies are more spec ific for SLE than those with low avidity and have high predictive value for the development of SLE if present in pts with manifestations compatible with SLE who fulfill fewer than four ACR criteria at the time of evaluation ( lupus like disease)

38. THANK YOU