Incomplete ileus and hemafecia as the presenting features of multi-organ involved primary systemic AL amyloidosis: a rare case report

Abstract

Background: AL Amyloidosis is known to be a systemic disease affecting multiple organs and tissue while it's rare that patients present with gastrointestinal symptoms at first and later develop multiple-organ dysfuction. Clinical signs are not specific and the diagnosis is rarely given before performing immunofixation and endoscopy with multiple biopsies. We would like to emphasize the value of precise diagnostic process of AL amyloidosis.

Case presentation: In this case report, we describe a 56-year-old man who presented with recurrent periumbilical pain for 4 months and gradually worsened over a month. After a series of tests, he was finally diagnosed with primary systemic AL amyloidosis. He was treated with a chemotherapy regimen (Melphalan, dexamethasone and thalidomide) achieving a good clinical response.

Conclusion: On account of the high misdiagnosis rate, establishing the most precise diagnosis in first time with typing amyloidogenic protein becomes increasingly vital. Although the presenting feature is usually nonspecific, AL amyloidosis ought to be considered when multiple organs are involved in a short period.

Keywords: AL amyloidosis; Bone marrow biopsy; Congo red stain; Immunofixation.

Fig. 1

Multiple petechiae and ecchymoses lesions around the eyelids (b), on the oral mucosa (a) and the neck bilaterally (c)

Fig. 2

CT scan of the abdomen revealed pelvic ascites with segmental intestinal wall thickening at terminal ileum

Fig. 3

Enteroscope found stricture at terminal ileum caused by semi-annular ulcers

Fig. 4

Histopathology of resected ileum showed orange-red positivity with Congo Red staining (a); Histopathology of resected ileum with Congo Red staining showed characteristic apple-green birefringence under polarized light (b); Histopathology of resected ileum with Congo Red staining showed characteristic apple-green birefringence under polarized light after potassium permanganate pretreatment (c); Microscopic findings of the stomach biopsy and orange-red positivity with Congo Red staining (d); Characteristic apple-green birefringence under polarized light (e); Microscopic findings of the skin biopsy and orange-red positivity with Congo Red staining (f); Characteristic apple-green birefringence under polarized light (g)

Fig. 5

Amyloid materials which are ~10 nm in diameter was showed in renal specimen by electron microscopy

Fig. 6

The echocardiographic study disclosed left ventricular thickening, “snowstorm” appearance of the myocardium and a small amount of excessive pericardial fluid