A previously well 59-year-old lady with 70 kg weight loss and chronic diarrhoea over a 28-month period presented following collapse and subsequent diagnosis of pulmonary embolism. Previous investigations for this weight loss included normal gastroscopy and colonoscopy, CT and MRI abdomen, barium follow through and octreotide scan.
She underwent echocardiogram which revealed myocardial speckling and asymmetrical left ventricular hypertrophy. Repeat oesophago-gastro-duodenoscopy and colonoscopy for rectal bleeding was performed. Colonoscopy revealed intramucosal haematomas and electron microscopy (EM) of the gastric biopsies confirmed amyloid deposition. Amyloidosis of the gastrointestinal (GI) tract and heart were confirmed on serum amyloid protein scan.
GI amyloid is rare and symptoms include weight loss, diarrhoea, GI bleeding and gut dysmotility. GI amyloidosis should be considered as a diagnosis and sought when other common causes have been excluded. The greatest yield is by Congo red staining or EM of rectal specimens.