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LETTERS TO EDITOR  
Year : 2019  |  Volume : 62  |  Issue : 4  |  Page : 638-640
Extensive gastrointestinal amyloidosis due to multiple myeloma mimicking inflammatory bowel disease in a young male


1 Department of Pathology, Postgraduate Institute of Medical Education and Research, Dr Ram Manohar Lohia Hospital, New Delhi, India
2 Department of Gastroenterology, Postgraduate Institute of Medical Education and Research, Dr Ram Manohar Lohia Hospital, New Delhi, India

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Date of Web Publication14-Oct-2019
 

How to cite this article:
Ahuja A, Sharma V, Bhardwaj M, Marwah S, Lamoria S. Extensive gastrointestinal amyloidosis due to multiple myeloma mimicking inflammatory bowel disease in a young male. Indian J Pathol Microbiol 2019;62:638-40

How to cite this URL:
Ahuja A, Sharma V, Bhardwaj M, Marwah S, Lamoria S. Extensive gastrointestinal amyloidosis due to multiple myeloma mimicking inflammatory bowel disease in a young male. Indian J Pathol Microbiol [serial online] 2019 [cited 2019 Dec 8];62:638-40. Available from: http://www.ijpmonline.org/text.asp?2019/62/4/638/269076




Editor,

Amyloidoses are a heterogeneous group of diseases, characterized by misfolding of extracellular proteins, forming insoluble fibrils which get deposit mainly in extracellular spaces of various organs and tissues resulting in their dysfunction.[1],[2],[3] Amyloidoses can be systemic or localized disease. Systemic amyloidosis is either acquired, as in immunoglobulin amyloid light-chain (AL) amyloidosis caused by an underlying clonal plasma cell dyscrasia, or hereditary, as most commonly occurs by modification of the transthyretin gene (mutant ATTR). Many patients with systemic AL disease have amyloid deposits in blood vessels from gastrointestinal (GI) tract biopsies, however, GI involvement in AL amyloidosis is defined as the presence of GI symptoms with direct biopsy proven amyloid deposition in the intestinal tissue.

GI amyloid deposits identified by endoscopic biopsy occur most often in the duodenum, followed by the stomach, colorectum, and esophagus.[4] Reports of amyloidosis localized to the GI tract are limited to case reports and small series of patients.[1],[5],[6]

We report an unusual case of biopsy-proven primary light-chain amyloidosis of the whole GI tract in a young man who presented with bleeding per rectum and later on work up turn out to be a case of AL type multiple myeloma with primary GI amyloidosis.

A 28-year-old male was being treated elsewhere for a diagnosis of ulcerative colitis due to sigmoidoscopic appearance of erosions and edema but was non-responsive to a combination of mesalamine and azathiopurine. For lack of relief in his symptoms he presented to Gastro OPD and was found to be symptomatic with the history of bleeding per rectum and increased frequency of stools for 1 year and weight loss for 3 months. The patient had mild pallor and bilateral pitting pedal edema.

On local examination, abdomen was soft and tender, however, no organomegaly was detected. Hematological profile revealed mid-anemia (Hb-10.1 g/dl) and raised ESR (26 mm in 1st h). Renal function test and liver function test were within normal limit except for low albumin and globulin levels (serum albumin 2.0 g/dl and serum globulin 1.9 g/dl). Ultrasound (USG) abdomen showed distended gall bladder and cholelithiasis. Ileocolonoscopy revealed edematous, thickened ileocecal valve, and extensive thickening of colonic folds with scattered ulcers [Figure 1]a and [Figure 1]b. Multiple biopsies were taken to rule out inflammatory bowel disease. Histopathological examination showed deposition of acellular extracellular eosinophilic material in the lamina propria and submucosa [Figure 2]a. Colonic biopsy in addition showed foreign body giant cell reaction, foreign body granulomas, focal cryptitis, and occasional crypt abscess [Figure 2]b. The eosinophilic deposits were congophilic when stained by Congo red and give green birefringence under polarized light confirming the material to be amyloid [Figure 2]c and [Figure 2]d.
Figure 1: Endoscopic images. (a) Edematous thickened ileocecal valve, (b) thickening of colonic folds, (c) thick duodenal folds

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Figure 2: (a) Colonic biopsy low power view (H and E; 10×) showing pink eosinophilic material in submucosa. b) High power (H and E; 40×) showing foreign body giant cell reaction against the deposited material. (c) Congo red highlighting material to be congophilic. (d) Green birefringence under polarized light confirming amyloid

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Ten days after colonoscopy, patient again presented with complaints of pain in abdomen, vomiting, and two episodes of hematemesis. Upper GI endoscopic examination showed thick mucosal folds in stomach and duodenum with erosions [Figure 1]c. Biopsy from stomach and duodenum revealed amyloid deposition in the lamina propria and few of the blood vessel wall [Figure 3]a, [Figure 3]b, [Figure 3]c, [Figure 3]d. The bleeding settled with proton-pump inhibitor infusion.
Figure 3: Histopathology images. (a) Ileal biopsy low power view (H and E; 10×) showing pink eosinophilic material in lamina propria and submucosa. (b) Duodenal biopsy (H and E; 20×) showing similar material in lamina propria. (c) Blood vessels showing deposits. (d) Green birefringence under polarized light

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Patient was then subjected to myeloma work up in view of extensive primary GI amyloidosis. Peripheral smears showed rouleaux formation [Figure 4]a. A 24 h urine protein was 13 g/day and serum protein electrophoresis revealed M band in gamma region. Bone marrow aspirate was diluted, however, it showed >10% plasma cells, while biopsy showed cellular marrow spaces with sheets of plasma cells [Figure 4]b and [Figure 4]c. No amyloid was identified in marrow spaces or blood vessels in biopsy when examined after Congo red stain. CD138 immunohistochemistry was applied which was positive in plasma cells [Figure 4]d. A final diagnosis of multiple myeloma with extensive primary amyloidosis of GI tract was rendered.
Figure 4: (a) Peripheral smear showing rouleaux formation. (b) Bone marrow aspiration smears showing plasma cells (MGG; 100×). (c) Bone marrow biopsy showing sheets of plasma cells (H and E; 40×). (d) Plasma cells positive for CD138 (IHC; 40×)

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While many patients with systemic AL disease have amyloid deposition in blood vessels from GI tract biopsies, GI tract involvement with both symptoms, and biopsy proof of involvement of the intestinal tissue itself is less common. In one series of 445 patients with AL amyloidosis, GI involvement was identified in 7% of patients.[5] In one of the largest recent study, 2334 patients with all types of amyloidosis were evaluated. Seventy-six patients (3.2%) had biopsy-proven amyloid involvement of the GI tract. AL amyloidosis was the most common cause of GI amyloid involvement 61 (80%), occurring in 50 patients as systemic disease and in 11 patients with localized disease (λ monoclonal light chain).[1] A case report by Gaduputi et al. also documented extensive GI involvement by amyloid.[6]

Patients with biopsy-proven GI amyloidosis often present with weight loss and bleeding. Commonly reported symptoms of GI amyloidosis include esophageal reflux, constipation, nausea, and abdominal pain.[1],[5] Median age at diagnosis is 61 years. Endoscopic features of AL amyloidosis may not be specific to the diseases which include thickened folds, erosions, ulcerations, friability, edema, and submucosal hematoma.[7] Therefore, biopsy is the gold standard for diagnosis.

GI complications are managed with symptomatic control. Autologous stem cell transplantation (SCT) is the treatment of choice for multiple myeloma. For those patients who are not eligible for SCT, melphalan and dexamethasone regimen is effective treatment for symptomatic relief.

We report this case for two reasons: one, the unusual presentation of GI amyloidosis mimicking inflammatory bowel disease and second, the young age of the patient wherein a 28-year-old male presented with extensive GI amyloidosis due to underlying multiple myeloma. Our case is possibly the youngest of all reported cases.

To conclude, clinicians as well as pathologists should be aware of unusual presentation of multiple myeloma even in young patients to facilitate early diagnosis and management of the disease.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Cowan AJ, Skinner M, Seldin DC, Berk JL, Lichtenstein DR, O'Hara CJ, et al. Amyloidosis of the gastrointestinal tract: A 13-year, single-center, referral experience. Haematologica 2013;98:141-6.  Back to cited text no. 1
    
2.
Sipe JD, Benson MD, Buxbaum JN, Ikeda S, Merlini G, Saraiva MJ, et al. Nomenclature 2014: Amyloid fibril proteins and clinical classification of the amyloidosis. Amyloid 2014;21:221-4.  Back to cited text no. 2
    
3.
Gertz MA, Comenzo R, Falk RH, Fermand JP, Hazenberg BP, Hawkins PN, et al. Definition of organ involvement and treatmentresponse in immunoglobulin light chain amyloidosis (AL): A consensus opinion from the 10th International Symposiumon Amyloid and Amyloidosis, Tours, France, 18-22 April 2004. Am J Hematol 2005;79:319-28.  Back to cited text no. 3
    
4.
Tada S, Iida M, Iwashita A, Matsui T, Fuchigami T, Yamamoto T, et al. Endoscopic and biopsy findings of the upper digestive tract in patients with amyloidosis. Gastrointest Endosc 1990;36:10-4.  Back to cited text no. 4
    
5.
Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 2003;349:583-96.  Back to cited text no. 5
    
6.
Gaduputi VK, Badipatla K, Patel H, Tariq H, Ihimoyan A. Primary systemic amyloidosis with extensive gastrointestinal involvement. Case Rep Gastroenterol 2013;7:511-5.  Back to cited text no. 6
    
7.
Lin X, Mao Y, Qi Q, Zhang C, Tian Y, Chen Y. Primary systemic amyloidosis initially presenting with digestive symptoms: A case report and review of the literature. Diagn Pathol 2015;10:174.  Back to cited text no. 7
    

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Correspondence Address:
Arvind Ahuja
Department of Pathology, Postgraduate Institute of Medical Education and Research, and Dr RML Hospital, New Delhi - 110 001
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJPM.IJPM_630_18

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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