Severe gastroparesis complicated by gastric perforation caused by lightchain amyloidosis

Abstract

Background

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.

Case report

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.

Conclusion

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.

Zusammenfassung

Hintergrund

Die AL-Amyloidose ist eine seltene systemische Erkrankung, die im Rahmen einer monoklonalen Gammopathie oder eines multiplen Myeloms vorkommen kann. In Abhängigkeit vom Organbefall kann die klinische Symptomatik vielgestaltig und die Diagnosestellung entsprechend schwierig sein.

Falldarstellung

Wir berichten über eine 59-jährige Patientin mit seit mehreren Jahren bestehenden gastroösophagealen Refluxbeschwerden, Übelkeit, epigastrischen Schmerzen und Meteorismus.

Wiederholte endoskopische und bildgebende Diagnostik (einschließlich CT) blieben unergiebig. Einzig auffällig war eine als unspezifisch eingestufte mesenteriale Lymphadenopathie, die nicht mit der Symptomatik in Verbindung gebracht wurde. Wiederholte Magenbiopsien waren in histopathologischen Standardfärbungen unauffällig. Wenige Wochen nach einer laparoskopischen Hiatoplastik und Fundoplicatio entwickelte sich eine erhebliche Dilatation des Magens und des proximalen Duodenums und schließlich eine Magenperforation. Aufgrund des endoskopischen Bildes (submukosale Hämatombildung und Ulzerationen) und der unklaren Motilitätsstörung erfolgte eine erweiterte histopathologische Diagnostik mittels Kongorot-Färbung. Hier konnte eine ausgeprägte Amyloidose nachgewiesen und als AL-Amyloidose klassifiziert werden. Ursächlich zeigte sich eine monoklonale Gammopathie. Eine spezifische onkologische Therapie wurde eingeleitet.

Zusammenfassung

Gastrointestinale Motilitätsstörungen können selten das initiale Symptom einer Amyloidose darstellen. Im dargestellten Fall führte eine späte Diagnosestellung zu einer schweren Gastroparese mit konsekutiver Magenperforation. Die Differenzialdiagnose einer Amyloidose sollte bei unklaren Motilitätsstörungen und unklarer abdomineller Lymphadenopathie in Betracht gezogen werden und mittels gezielter histopathologischer Diagnostik abgeklärt werden.

Keywords

amyloidosis - gastroparesis - gastric perforation - endoscopy - monoclonal gammopathy

Schlüsselwörter

Amyloidose - Gastroparese - Magenperforation - Endoskopie - monoklonale Gammopathie

Publication History

Received: 05 October 2024

Article published online:
25 November 2024

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