An unusual case of hereditary transthyretin‐related amyloidosis and ulcerative colitis in a young Indian girl

Abstract

Hereditary transthyretin (TTR) amyloidosis is a multisystem disorder caused by extracellular amyloid deposition, usually presenting with neurological and cardiovascular involvement. Gastrointestinal involvement, if present, is usually in the form of motility symptoms like diarrhea, constipation, or diarrhea alternating with constipation. Presentations mimicking ulcerative colitis without other system involvement are rare. Here we present a case of a young female from northern India, who presented with blood‐admixed diarrhea without any feature of any other system involvement. She was diagnosed and treated as ulcerative colitis for two years with ambivalent response, although the compliance to therapy was also poor. She was re‐evaluated when she presented with recurrence of symptoms and new onset dysphagia. On evaluation, she was diagnosed as hereditary transthyrtetin related amyloidosis.