By Author
  By Title
  By Keywords

October 1995, Volume 45, Issue 10

Case Reports

Primary Amyloidosis of Gut Presenting with Dysphagia

Zaigham Abbas  ( Dept. of Medicine, Baqai University Hospital, Karachi. )
Naim-ur-Rehman  ( Dept. of Medicine, Aga Khan University Hospital, Karachi. )
Shahid Pervez  ( Dept. of Pathology, Aga Khan University Hospital, Karachi. )
Shahab Abid  ( Dept. of Medicine, Baqai University Hospital, Karachi. )

Introduction

The gut may be involved in the primaiy (AL) amyloi­dosis1. It is associated with dysmotility and malabsorption2. Endoscopic examination of these cases reveals fine granular appearance of mucosa, polypoid protrusions, erosions, ulcera­tions and mucosal friability3. We present here a case of primary amyloidosis of gut who presented with dysphagia.

Case report

A sixty-five year old lady presented with increasing dysphagia forboth solids and liquids. Her initial symptom was feeling of food sticking in the retrostemal region followed by vomiting of food, anorexia and constipation. She became dependent on laxatives to move her bowels on alternate days. She lost about 10 Kg of body weight and became completely bedridden. There was a past histor of breast carcinoma operatedoneyearback, whichwas stage I disease. Post-opera­tively radiotherapy was administered and presently tainoxifen was in use. On examination, the patient was afebnle, looked pale and had bilateral xanthelasma. Pulse rate was 80 per minute and blood pressure 90/60 mmHg in supine position and there was mild pedal odema. Systemic examination revealed no abnonnality. Haemoglobin was 9.4 gram/dl with nomio­chromic normocytic picture, total leucocyte count 10400/uf, ESR 8 mm 1st hr., serum creatinine 1.2 mg/dl and serum sodium 128 mmol/1. Transaminases were normal. Albumin was 2.0 gfdl and globulins 1.7 g/dl. Protein electrophoresis showed an increase in alpha one fraction with a decrease in beta and gamma fractions of globulin. She was mildly hypothyroid with a TSH of 8.29 uU/ml (0.3 2-5.0) and T4 of 4.0 ug/dI (4.5-12.0). Urine DR and Chest X-rays were normal. Barium studies could not be done as patient was bedridden. Upper gastrointestinal endoscopy was performed. There was paucity of primary penstaltic waves inoesophagus. A ring of contraction was seen in the distal oesophagus 3 cm above the Z line. The ‘ring’ relaxed intermittently for brief periods. Lower oesophageal sphincter was gaping. The oesophageal mucosa was erythematous with fine granularity and erosions near the Z line. The gastric lake was full of greenish biliary fluid. Pylorus was wide open and gastric and duodenal mucosa were erythematous. Biopsies were taken from oesophagus, stomach and duodenum. Later rectal biopsy was also taken. Histopathology report revealed homogenous thickening of blood vessel walls in all the specimens with areas exhibiting nodulesofeosinophilichomogenous material in the lamina propria. Congo red staining with green birefrin­gence on polarisation confirmed the amyloid deposits in these areas and vessel walls (Figures 1 and 2).


Pretreatment with modified pennanganate stain followed by standard Congo red stain did not abolish the green birefringence in the polarized microscope confirming the AL type of amyloid (primary amyloidosis).

Discussion

Amyloidosis of oesophagus may present with acha­lasia4-6, oesophageal spasms7, non-specific motility disorder8 or decreased lower oesophageal sphincter pressure9. The manometric abnormalities observed are consistent with depo­sitibn of amyloid in smooth and striated muscle as well as in the entire nervous system9,10. Though the manometric studies were not done in our case, severe motility dysfunction was apparent on endoscopic examination. Paucity of any propul­sive waves and presence of a ring of contraction in the lower oesophagus could explain her symptoms of sticking of food and dysphagia. There was also endoscopic evidence of gastroparesis and bile reflux. Dysmotility had affected her bowel habits and she was experiencing increasing constipa­tion, alteration in the bowel habits and intestinal pseudo-ob­struction have been reported in amyloidosis of gut11. Our patient had AL type of amyloid deposits. In one study abdominal distension, nausea and vomiting were more frequent in patients of AL type whereas, incidence of diarrhoea and gastrointestinal bleeding was high in AA type12. Duodenum is involved in almost all cases of gastrointestinal amyloidosis as compared to rectum which may be involved in 86-91% cases3,12. So duodenal biopsy should replace the rectal biopsy to increase the diagnostic yield.

References

1. Case records of the Massachusetts General Hospital. Case 43-1985. N. Engl. J. Med., 1985;313:1070-9.
2. Kyle, R. A. and Greipp, P.R. Amyloidosis (AL). Clinical and laboratory features in 229 cases. Mayo Clin. Proc., 1983;58 :665-83.
3. Tada, S., lida, M., Iwashita, A. et al. Endoscopic and biopsy findings of the upper digestivetract in patients with amyloidosis. Gastrointest. Endosc., 1990;36: 10-14
4. Costigan, D. J. and Clouse, R. E. Achalasia - like oesophagus from amyloidosis Successful treatment with pneumatic bag dilatation. Dig. Dis. Sci., 1983;28:763-5.
5. Lctkowitz, J. R., Brand, D. L., Schuffler, M. D. et al. Amyloidosis mimics achalasia’s effect on lower esophageal sphincter. Dig. Dis. Sci., 1989;34:630-5.
6. Suns, X., Moya, F., Panes, J. et al. Achalasia of the esophagus in secondary amyloidosis. Am. J. Gastroenterol., 1993;88: 1959-60.
7. Funch - Jensen, P., Foged, E., Ravnsback, J. et al. A case ofesophageal spasm in amytoidosis. Acta Med. Scand., 1986;219:229- 33.
8. Bjerle, P, Ek, B., Linderholm, H. et al. Oesophageal dysfunction in familial amyloidosis with polyneuropathy. Clin. Physiol., 1993; 13:57-69.
9. Burakoff. R., Rubinow. A. and Cohen, A. S. Esophageal manometry in familial polyneuropathy. Am. J. Med., 1985;79:85-9.
10. Rubinow, A., Burakofl R., Cohen, A. S. et at. Esophageal manometry in systemic amyloidosis. A study of 30 patients. Am. J. Med., 1983;75:951-6.
11. Lea, J. G., Wilson, J. A. and Gottfried, M. R. Gastrointestinal manifestations of amytoidosis. South Med. J., 1994;87:243-7.
12. Tada, S. Diagnosis of gastrointestinal amytoidosis with special reference to the relationship with amyloid fibril protein. Fukuoka Igaku Zasshi, 1991 ;82:624-47

Journal of the Pakistan Medical Association has agreed to receive and publish manuscripts in accordance with the principles of the following committees: