Severe gastroparesis complicated by gastric perforation caused by lightchain amyloidosis

Abstract

AL-Amyloidosis is a rare systemic disease that can occur in patients with monoclonal gammopathy or multiple myeloma. As multiple organs may be affected by deposition of amyloid fibrils, the clinical presentation varies considerably, and the diagnostic process may be challenging.We report on a 59-year-old female who suffered from gastroesophageal reflux symptoms, nausea, epigastric pain, and meteorism over several years. Repeated upper GI endoscopies including biopsies and CT scans were unremarkable except for unspecific enlargement of mesenterial lymph nodes.A few weeks after a surgical hiatal hernia repair with fundoplication, the patient developed massive distension of the stomach and the proximal duodenum resulting in gastric perforation. Histopathological staining of gastric biopsies and mesenterial lymph nodes using hematoxylin and eosin was unremarkable. Because of endoscopic findings (submucosal hematomas, and ulcerations) and the unexplained severe motility disorder, histopathological staining was performed using Congo red. Extensive amyloid deposits were seen. Further workup confirmed AL amyloidosis caused by monoclonal gammopathy. Specific oncological treatment was started.The rare differential diagnosis of amyloidosis should be taken into account in patients with unexplained motility disorders, unspecific gastrointestinal symptoms, and abdominal lymphadenopathy. In the presented case, delayed diagnosis of AL amyloidosis in the gastrointestinal tract led to severe gastroparesis resulting in gastric perforation. Specific histopathologic staining can confirm the diagnosis.